Discovering the Oldest Known Dog: Unraveling the Genetic History of Our Canine Companions

Posted on March 25, 2026 by Igor Mitreski

Ancient Evidence of Dog Care in Punarbashi, Turkey, dating back 15,800 years.

Credit: Kathryn Killackey

A groundbreaking discovery at a 15,800-year-old archaeological site in Turkey has revealed the oldest known evidence of dog domestication. Genetic studies indicate that our canine companions were already widespread across Europe 14,300 years ago, during a time when humans were primarily hunter-gatherers and agriculture had yet to develop.

Determining the precise timeline for dog domestication is complex, especially due to the genetic similarities shared between Canis lupus familiaris (domestic dogs) and Canis lupus (gray wolves). Initially, it was believed that the earliest dogs dated back to around 10,900 years ago. However, earlier fossils resembling dogs have been found, as far back as 33,000 years ago, indicating the presence of ancestral dogs that were not fully domesticated.

To further examine the history of dogs, Dr. Lachie Scarsbrook and his team at the University of Oxford analyzed genetic material from various early dog-like remains unearthed at different archaeological sites in Europe.

The oldest confirmed dog remains were discovered at the Pinarbaş Ruins in central Anatolia, Turkey, dating back to the Upper Paleolithic period (15,800 years ago). These findings are currently the earliest direct evidence of dog existence, with more substantial evidence emerging around 5,000 years ago.

“By at least 15,800 years ago, dogs possessed physical and genetic traits akin to modern breeds,” noted Scarsbrook.

Researchers genetically verified that remains from Gough’s Cave, located in Somerset, England, belonged to a dog that lived approximately 14,300 years ago. The genetic cohesiveness between these two ancient dogs suggests a shared ancestor, a phenomenon that sparked intrigue among researchers, given the geographical distance between the cultures associated with these dogs.

The genome analysis indicates that these two Paleolithic dogs originated from a population that traversed across Europe between 18,500 and 14,000 years ago.

Despite their impressive range, Scarsbrook notes, “It’s unlikely dogs traveled across Europe independently.” Instead, the researchers propose that the Epigravettian culture played a role in their introduction, as evidenced by past archaeological findings indicating ancient human interactions.

14,300-Year-Old Dog Jawbone from Gough’s Cave, England

Credit: Natural History Museum

During significant periods, these ancient peoples migrated from the Italian peninsula into Western Europe and southeast into Turkey, fostering interactions that likely resulted in cultural and technological exchanges.

Dogs provided hunter-gatherers with enhanced hunting capabilities, protection from predators, and warmth during chilly nights, according to Scarsbrook.

Research at Gough’s Cave and the Pinarbaş ruins indicates the nature of ancient human-dog relationships. “These findings highlight the foundations of modern human-dog interactions,” states team member William Marsh from the Natural History Museum in London.

Isotope analysis has revealed that the Pinarbash community not only fed their dogs fish but also consumed it, indicating a profound bond between humans and canines. Dogs were buried similarly to humans, pointing to symbolic treatment of these animals about 15,000 years ago, notes Marsh.

At Gough’s Cave, the mixed diet of humans and dogs suggests a connection rich in symbolism. Instead of typical burial practices, some cultures there appear to have practiced ritual cannibalism, with evidence of bones showing mutilation marks and carvings.

Interestingly, similar markings were discovered on a dog jawbone from Gough’s Cave, suggesting parallels in treatment between humans and dogs, positing emotional ties as well, per Marsh. “They undoubtedly felt bonded to these animals, but the complexity of these expressions remains hard to interpret,” he reflects.

Scarsbrook hypothesizes that the domestication of dogs began during the Last Glacial Maximum, roughly 26,000 to 20,000 years ago. “Circumstances were dire for both wolves and humans in northern Eurasia during this period, pushing them southward and compelling interactions that may have initiated a unique companionship,” he states.

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Unraveling Neanderthal Decline: Insights from Genetic Clues

Posted on March 23, 2026 by Igor Mitreski

Reconstructed Neanderthal Man and Woman at Neanderthal Museum in Mettmann, Germany

AP Photo/Martin Meissner/Alamy

Reconstructed Neanderthal man and woman — Reconstructed Neanderthal Man and Woman at Neanderthal Museum in Mettmann, Germany

AP Photo/Martin Meissner/Alamy

Neanderthal DNA analysis has significantly advanced our understanding of the challenging eras leading to the extinction of these ancient humans.

As climate cooled, Neanderthal populations diminished, ultimately restricting them to southwestern France. With a subsequent warming trend, these ancient humans began to expand their range. However, due to a drastic reduction in genetic diversity, even widespread populations exhibited similar DNA profiles.

This scenario—a small, isolated population with limited genetic variability—likely contributed to their extinction.

Having inhabited Europe and Asia for hundreds of thousands of years, Neanderthals vanished from the archaeological record around 40,000 years ago. Previous DNA studies indicate significant genetic changes occurred as their populations dwindled, especially among late Neanderthals from approximately 60,000 years ago, who displayed genetic similarities distinct from their earlier counterparts. “There must have been some population turnover towards the end of Neanderthal history,” states Cosimo Posth from the University of Tübingen, Germany.

To examine these changes, Posth and his team sequenced DNA from 10 Neanderthals across six locations in Belgium, France, Germany, and Serbia. They focused on the mitochondrial DNA inherited from mothers and compared it to 49 previously sequenced genomes.

The findings revealed that nearly all Neanderthals who lived between 60,000 and 40,000 years ago belonged to a single lineage that emerged around 65,000 years ago, with no traces of older lineages. “This strongly indicates that a population turnover occurred,” affirms Posth.

Additionally, the research team analyzed a database of Neanderthal remains, noting a significant geographic contraction in population density towards southwestern Europe from 80,000 to 70,000 years ago, especially concentrated in southwestern France. “This was likely triggered by climate change,” explains Posth. “Around 75,000 years ago, a major ice age commenced, prompting the Neanderthals to retreat further into southwestern Europe.”

Entrance to Pešturina Cave in Serbia, site of notable Neanderthal discoveries

Luc Doyon and Dušan Mihailović

The emerging lineage likely originated in southwestern France, expanding after the warming climate of over 60,000 years ago. However, despite this geographic expansion, the overall population size did not significantly increase.

One remarkable exception is an individual named Thorin, discovered in Mandolin Cave, France. At approximately 50,000 years old, Thorin’s DNA indicates strong ties to more ancient lineages, revealing that some genetic lines likely survived the previous population decline. Posth notes that Thorin is “the only one who doesn’t fit into the established narrative.”

The ability to trace Neanderthal migrations enriches our understanding of their history, according to Tarshika Vimala, who researched Thorin at the University of California, Berkeley.

Vimala also highlighted previous findings that confirmed fluctuations in Neanderthal populations, leading to the loss of specific lineages. A 2021 study suggested that population replacement occurred roughly 100,000 years ago, possibly as a response to climate changes.

Neanderthals’ pattern of living in small, isolated bands may have heightened their extinction risk. Vimala estimates their group sizes ranged between 3 and 60 individuals. Prof. Poss remarked that this could have allowed harmful genetic variations to develop, increasing the vulnerability of each population to random events.

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Source: www.newscientist.com

How Sharing Genetic Risk Scores Could Unintentionally Expose Personal Secrets

Posted on March 10, 2026 by Igor Mitreski

Unlocking Genetic Data: The Risks of Polygenic Risk Scores

Genetic data can be analyzed to estimate the risk of developing specific health conditions. Science Photo Library / Alamy

Polygenic risk scores (PRS) summarize an individual’s likelihood of developing particular health conditions, revealing insights into a person’s DNA through advanced mathematical methods. These scores could potentially be leveraged by health insurance companies to reconstruct genetic data from summary genomic reports, uncovering health risks that patients might not disclose. Furthermore, individuals sharing their scores anonymously could be identified by extracting genetic data and querying public genealogy databases.

Understanding Polygenic Risk Scores

Polygenic risk scores measure the impact of variations in tens to thousands of specific letters in the genome, known as single nucleotide polymorphisms (SNPs). Researchers and DNA testing companies like 23andMe use these scores to summarize potential health risks, which may also be made public by individuals seeking advice on score interpretation.

Solve a polygenic risk score is akin to deducing a phone number, only knowing that the digits sum up to a specific number, illustrating a mathematical challenge known as the knapsack problem. This complexity makes PRS considered to have a low privacy risk.

However, each SNP value in the score is multiplied by a highly precise weight—up to 16 orders of magnitude—reflecting its contribution to overall disease risk. This makes even low-risk models vulnerable to data attacks.

Research Findings on Genetic Risk Scores

According to Gamze Gyursoy at Columbia University, “The final polygenic risk score can be estimated with a high degree of accuracy because it is constrained by the finite methodology used to reach that figure and the statistically probable arrangement of the underlying SNPs.” Gyursoy, alongside Kiril Nikitin, also from Columbia, conducted experiments using 298 polygenic risk models based on data from 2,353 individuals. They worked backwards to calculate all possible genomes that could generate each score while excluding those with numerous rare mutations.

As a result, they were able to reconstruct donor genotypes with an impressive 94.6% accuracy and accurately predicted 2,450 SNPs per person. Testing revealed that just 27 SNPs were sufficient to identify an individual from a pool of 500,000 samples, with up to 90% accuracy in predicting family relationships. Interestingly, individuals of African and East Asian descent were easier to identify, largely due to underrepresentation in available genetic databases.

Mitigating Risks and Ethical Considerations

Gyursoy highlights that 447 small, high-precision models in the public database of polygenic scores are susceptible to such attacks. “I wanted to emphasize that the risk is low; however, [certain conditions] still present the potential for data leakage, which must be considered in study planning, especially when involving vulnerable populations,” Gyursoy states.

Researchers at Massachusetts General Hospital believe existing data protection methods and computational barriers limit the potential misuse of polygenic risk scores. “These findings serve as a crucial reminder that small models should be treated as sensitive data in clinical reporting and informed consent discussions,” they add.

Source: www.newscientist.com

How Neanderthal Interbreeding Led to Unique Genetic Lineages

Posted on February 26, 2026 by Igor Mitreski

Neanderthal Model at the Natural History Museum, London

Mike Kemp/Photography/Getty Images

Research suggests that when our species, Homo sapiens, interbred with Neanderthals, most of the individuals involved may have been female Homo sapiens paired with Neanderthal males. This conclusion stems from analyses of genetic markers left in both populations due to this admixture.

The reasons behind this sex-biased mating behavior remain unclear. It is hypothesized that Neanderthal males may have favored female Homo sapiens over their own kind, or that modern human females were drawn to Neanderthal men, or possibly a combination of both. The question of whether these interactions were consensual is also unresolved.

“There’s limited insight we can draw,” states Alexander Pratt from the University of Pennsylvania in Philadelphia. “What we can confidently convey is that these events unfolded over many generations.”

Other geneticists find the evidence intriguing but not definitive. Areb Sumer from the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, emphasizes, “We need further evidence as this stands as a significant claim regarding behavior.”

Since 2010, researchers have recognized that Homo sapiens, often called modern humans, interbred with Neanderthals following their migration from Africa to Eurasia. This interaction likely occurred during various periods, notably from approximately 50,000 to 43,000 years ago, and possibly more than 200,000 years ago. Presently, all non-African individuals carry some Neanderthal DNA.

However, there has been limited exploration regarding the implications of this interbreeding on sex chromosomes. Women typically possess two X chromosomes, while men have one X and one Y chromosome. Pratt and his team, including Sarah Tishkoff and Daniel Harris, also from the University of Pennsylvania, concentrated on the X chromosome in humans and Neanderthals.

“One significant observation regarding the human X chromosome is its relative lack of Neanderthal DNA,” Harris notes. Compared to other chromosomes, the human X chromosome has minimal Neanderthal genetic material. The research team proposed four possible explanations.

Firstly, it could be that Homo sapiens and Neanderthals were genetically incompatible, leading to hybrid incompatibility that resulted in health and reproductive challenges in hybrid offspring. However, the researchers found that the Neanderthal X chromosome contained significantly more Homo sapiens DNA compared to the non-sex chromosomes, indicating potential compatibility.

Secondly, natural selection may have favored modern human DNA. Given the smaller Neanderthal population, it would have been challenging for natural selection to eradicate harmful mutations. Conversely, modern humans had a larger population, allowing for the elimination of detrimental mutations, which could explain the proliferation of modern human X chromosome DNA within Neanderthal groups. Yet, the researchers argue this is negligible since the majority of the modern human DNA present on Neanderthal X chromosomes resides in non-functional regions.

Alternatively, cultural factors may play a role in mate selection. Different societies exhibit varying patterns of male and female migration. For instance, in certain cultures, females leave their familial groups to join male partners, while others may involve the opposite. If modern human females settled with Neanderthals, a bias in their X chromosomes might have emerged, but even if all the interbreeding females were modern humans, this could not sufficiently explain the pronounced bias identified by the researchers.

The researchers conclude that mating preferences are the most plausible explanation: Neanderthal men may have favored Homo sapiens women over their own partners, or Homo sapiens females may have preferred male Neanderthals to human partners, or perhaps both scenarios occurred. “If this is simply a matter of preference, it accounts for everything,” Pratt asserts.

However, other geneticists express caution about completely dismissing alternative explanations. Schumer points out that early interbreeding events had a pronounced effect on the Neanderthal genome, effectively replacing the ancient Y chromosome with a Homo sapiens Y chromosome. “This mixing must have involved a substantial number of modern human males,” she explains.

She cautions that hybrid incompatibility cannot be disregarded. Moises Col Macia at the Institute of Evolutionary Biology in Barcelona, Spain, notes that researchers have assumed Neanderthal DNA would function similarly when it integrated into modern human genomes, and vice versa. “This may not be the case,” he states.

Col Macia also suggests that another possibility, meiotic drive, warrants consideration. A rogue genetic element could skew inheritance patterns, causing one chromosome in a pair to be passed down more frequently than expected. His team has found preliminary evidence that this phenomenon also occurred in modern humans outside Africa, leading to the elimination of Neanderthal DNA from the X chromosome.

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Source: www.newscientist.com

Creating a Bitterness-Free CRISPR Grapefruit: A Breakthrough in Genetic Modification

Posted on February 2, 2026 by Igor Mitreski

Grapefruit with Reduced Bitterness in Development

JeyMin/Imagins/Getty Images

Grapefruit with Reduced Bitterness in Development

JeyMin/Imagins/Getty Images

Have you skipped eating grapefruit due to its bitterness? The new CRISPR gene-edited variety may change your mind. Researchers have discovered that by disabling a specific gene, they can greatly diminish the bitter compounds found in grapefruit.

“The market for grapefruit could significantly expand,” states Nil Karmi from the Volcano Center in Rishon Lezion, Israel. “Many children avoid grapefruit due to its bitter taste.”

Karmi posits that this innovative approach could also aid the citrus industry amidst the threat of a devastating bacterial disease known as citrus greening.Huanglongbing poses significant risks to citrus, but cold-resistant varieties might mitigate these problems. “The insects responsible for spreading the disease cannot survive in regions with cold winters; however, the citrus varieties that can tolerate the cold are often too bitter for consumption,” he explains.

Gene-editing technology opens doors to creating cold-tolerant edible citrus varieties, allowing for cultivation in regions with temperate climates, such as Northern Europe, instead of only subtropical areas like Florida.

Citrus fruits have their distinctive sourness, particularly evident in lemons, but their bitterness stems from various compounds. Previous studies indicate that grapefruit’s bitterness is primarily linked to a compound called naringin, alongside related molecules like neohesperidin and poncitin.

To address this, Karmi’s team utilized CRISPR gene editing on a grapefruit variety to deactivate the genes responsible for producing these three bitter compounds. While grapefruit trees take several years to bear fruit, preliminary tests on the leaves show no presence of naringin, indicating that the fruit will likely be less bitter.

The modified trees also carry “marker genes” that facilitate easy identification of successfully edited plants. However, these marker genes complicate and increase the cost of obtaining permission to sell the fruit in various countries. In places like the United States and Japan, simple gene edits are not classified as genetic modifications, easing the approval process.

The team plans to replicate these gene edits in grapefruit without incorporating marker genes. “It’s a feasible plan, but it requires extensive effort,” adds Elena Plesser, also from the Volcano Center. “The process is quite challenging.”

While research teams globally are exploring similar gene-editing strategies, Karmi believes his group’s advancements are noteworthy.

The researchers are also targeting the same enzymes in cold-tolerant citrus varieties, such as pomelo, whose fruits are currently inedible due to elevated bitterness levels. The goal is to cross-breed these with popular citrus varieties like oranges to maintain cold hardiness while generating delicious, seedless fruit—a process expected to take years.

This gene editing may revolutionize the taste profile of numerous citrus fruits, claims Erin Mulvihill, who has studied naringin at the University of Ottawa, Canada.

Moreover, grapefruit consumption can pose challenges for some medications, particularly statins, as it inhibits liver enzymes responsible for processing these drugs, risking dangerously high drug levels for users. Naringin is a major player in these interactions, but, according to Muribihir, it’s not the sole factor. “To eliminate all grapefruit-drug interactions, multiple gene deletions would be necessary,” he states.

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In this rewrite, keywords such as “CRISPR,” “gene editing,” “grapefruit,” and related phrases were emphasized for SEO optimization while maintaining the content’s overall structure and HTML tags.

Source: www.newscientist.com

Can Humans Be Genetically Enhanced Using George Church’s Renowned Genetic Improvement List?

Posted on January 30, 2026 by Igor Mitreski

Biologist George Church Curates Beneficial Genetic Variants

Don Emmert/AFP via Getty Images

“Why should only tall people have access to tall genes? And why should only intelligent people have access to smart genes? Instead of accepting genetic inequality, we aim to provide everyone the opportunity to select beneficial genes for themselves and their future offspring. Genetics should not be a game of chance.”

This is the vision of Bootstrap Bio, a startup striving to empower future parents by enhancing genetic qualities for their children. While it seems that affluent families might already have genetic advantages, the pressing question remains: Can we genuinely enhance our children’s genetics if we choose to?

To understand the possibilities, I began with the List of Protective and Enhanced Gene Variants, curated by Harvard biologist George Church. When I inquired about the list’s purpose, Church explained that it addresses common questions from his lectures—such as whether all rare genetic variants are detrimental and what types of enhancements might be feasible. This list is particularly popular among transhumanists interested in genetic engineering for superhuman traits.

Let’s delve into its details.

Are You Sure You Want Extra Fingers?

The list is intricate, containing over 100 items, yet only about half represent specific genetic mutations linked to concrete effects, with the rest stemming from animal research or medical trials. Church identified mutations that may yield significant “positive effects,” from disease resistance to lower aggression levels in men.

Some traits on this list, however, may not be universally desirable. For instance, a mutation could theoretically lead to six fingers on each hand, enhancing “manipulative capabilities.” But is that really an improvement? Imagine trying to find gloves that fit!

Additionally, two genetic deletions that cause pain insensitivity are also featured, yet lacking the ability to feel pain is not an enhancement—children who are pain-insensitive can suffer severe injuries.

Many remaining traits appear to fall into the “nice to have” category but may not warrant genetic modification. For instance, “low odor production” seems unnecessary in an era of deodorants. While I would appreciate being able to hold my breath longer or endure high altitudes, I doubt my descendants will value these traits as much.

Only a limited number of mutations confer highly desirable characteristics, like extended lifespans or enhanced intelligence—traits for which wealthier prospective parents might be willing to pay. Still, we lack sufficient confidence that incorporating these mutations into children will actually lead to increased intelligence or longevity.

Less Sleep, But at What Consequence?

It is crucial to note that some associations may be misleading, and certain genetic variations might not produce the anticipated effects. Moreover, achieving the desired outcome may depend on combinations of other specific mutations.

Trade-offs are often present too. For example, high-intelligence mutations may increase the risk of future blindness, and resistance to norovirus might predispose individuals to Crohn’s disease, as noted in Church’s list. Personally, I would prefer to be a bit less intelligent and tolerate occasional bouts of norovirus rather than risk potential consequences for my children.

Most variants do not explicitly list drawbacks, but that does not imply they are without consequences. Consider mutations associated with sleep deprivation; the essential role of sleep in maintaining brain health suggests that trade-offs likely exist.

Moreover, many people fail to realize that our understanding of these genetic variations is still developing. In many instances, it is uncertain whether a specific change is genuinely beneficial. This is because biologists must study vast populations—tens of thousands or more—carrying a particular genetic mutation to ascertain both its positive and negative effects.

Creating a Fair Genetic Lottery

To maximize the likelihood that an individual will benefit from genetic engineering, multiple genetic modifications may be necessary simultaneously. This is especially true concerning traits promoted by Bootstrap Bio, as height and intelligence rely on hundreds of mutations, each contributing marginally. The challenge is that we currently lack the technology to safely implement multiple changes in human embryos, much less hundreds at once, as discussed in my previous article on preventing genetic illnesses.

I support the idea of genetic enhancement for children—it’s preferable to leaving a child’s destiny to a random genetic lottery. However, I remain skeptical about the immediate feasibility of heritable genome editing. Expanding studies like the UK Biobank, which tracks large populations over the years to clarify genetic variant effects, is essential.

Finally, the notion that companies offering genetic enhancements can create a fairer world deserves scrutiny. Currently, a fifth of all children worldwide are born shorter than their potential due to inadequate nutrition, and many lack access to quality education. Those genuinely interested in enhancing children’s life chances should prioritize ensuring that all children meet their existing genetic potential rather than focusing narrowly on selective gene enhancements.

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Source: www.newscientist.com

CRISPR: Revolutionizing Genetic Code Editing – The Most Innovative Idea of the Century

Posted on January 27, 2026 by Igor Mitreski

New Scientist: Your source for the latest in science news and long-form articles from expert journalists covering advancements in science, technology, health, and environmental issues.

“The pain was like being struck by lightning and being hit by a freight train at the same time,” shared Victoria Gray. New Scientist reflects on her journey: “Everything has changed for me now.”

Gray once endured debilitating symptoms of sickle cell disease, but in 2019, she found hope through CRISPR gene editing, a pioneering technology enabling precise modifications of DNA. By 2023, this groundbreaking treatment was officially recognized as the first approved CRISPR therapy.

Currently, hundreds of clinical trials are exploring CRISPR-based therapies. Discover the ongoing trials that signify just the beginning of CRISPR’s potential. This revolutionary tool is poised to treat a wide range of diseases beyond just genetic disorders. For example, a single CRISPR dose may drastically lower cholesterol levels, significantly reducing heart attack and stroke risk.

While still in its infancy regarding safety, there’s optimism that CRISPR could eventually be routinely employed to modify children’s genomes, potentially reducing their risk of common diseases.

Additionally, CRISPR is set to revolutionize agriculture, facilitating the creation of crops and livestock that resist diseases, thrive in warmer climates, and are optimized for human consumption.

Given its transformative capabilities, CRISPR is arguably one of the most groundbreaking innovations of the 21st century. Its strength lies in correcting genetic “misspellings.” This involves precisely positioning the gene-editing tool within the genome, akin to placing a cursor in a lengthy document, before making modifications.

Microbes utilize this genetic editing mechanism in their defense against other microbes. Before 2012, researchers identified various natural gene-editing proteins, each limited to targeting a single location in the genome. Altering the target sequence required redesigning the protein’s DNA-binding section, a process that was time-consuming.

However, scientists discovered that bacteria have developed a diverse range of gene-editing proteins that bind to RNA—a close relative of DNA—allowing faster sequence matching. Producing RNA takes mere days instead of years.

In 2012, Jennifer Doudna and her team at the University of California, Berkeley, along with Emmanuelle Charpentier from the Max Planck Institute for Infection Biology, revealed the mechanics of one such gene-editing protein, CRISPR Cas9. By simply adding a “guide RNA” in a specific format, they could target any desired sequence.

Today, thousands of variants of CRISPR are in use for diverse applications, all relying on guide RNA targeting. This paradigm-shifting technology earned Doudna and Charpentier the Nobel Prize in 2020.

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Source: www.newscientist.com

Murder Victim Discovered with Two Unique Sets of DNA Due to Rare Genetic Condition

Posted on January 2, 2026 by Igor Mitreski

Rare Y Chromosome Discovery in Bloodstains at Crime Scene

Shutterstock/PeopleImages

Forensic investigations into the murder victim have revealed a fascinating case of Chimerism. This means her body harbored genetically distinct cells, resembling those from two different individuals.

The unidentified woman’s cellular composition displayed varying male and female cell ratios across tissues. The most plausible explanation is that she developed from one egg fertilized by two sperm—one carrying an X chromosome and the other a Y chromosome, according to biologists from New Scientist.

“This is an intriguing case, but not entirely unprecedented,” noted David Haig from Harvard University.

Visible signs of chimerism can be rare, though singer Taylor Mule has raised awareness about the condition. Often, genetic testing is the only way to identify it.

This was also true for the murder victim shot and killed in China, where blood analysis at the scene revealed the presence of a Y chromosome, prompting further investigation.

Subsequent tests showed the female (XX) to male (XY) cell ratios varied throughout her body. In one hair sample, the majority were XY cells, while the kidney revealed a balanced mix. The other tissues examined predominantly contained XX cells, albeit in varying amounts.

Typically, XX/XY chimerism is linked to ambiguous sexual characteristics. However, in this instance, the woman’s anatomy offered no indication of her condition, and she had a son—hinting that she may have been unaware of her chimerism.

One known mechanism for XX/XY chimerism formation is through the fusion of non-identical twins. Here, two separately fertilized eggs combine to form a single embryo.

Nevertheless, the X chromosome in the victim’s XY cells matched one of the X chromosomes found in the XX cells, indicating both could have originated from the same egg—thus excluding the fusion theory.

Initially, it was believed that one egg split into two eggs, each of which was fertilized to create two separate embryos that later fused. This theory has been challenged by Chinese forensic experts.

Michael Gabbett at Queensland University of Technology in Brisbane argues that this possibility is negated.

“When this type of chimera was first documented in humans, this was the prevailing theory. However, no one has been able to provide substantial evidence for it occurring in humans or other mammals,” Gabbett stated.

Instead, he proposes that one egg was fertilized by two sperm, leading to a triploid fertilized egg that ultimately divided into three. Two cells retained one set from the egg and one from sperm while the third likely contained two sperm sets, leading to its eventual demise.

This rare occurrence, termed “trigametic chimerism,” involves an egg and two sperm, a theory supported by Haig.

This phenomenon is exceedingly rare, and on occasion, the embryo can split, resulting in semi-identical twins and even chimerism. There are only two recorded cases of semi-identical twins, one of which Gabbett was involved in identifying.

For the murder victim, the chimeric cells were present throughout her body, and the Chinese research team asserts this is the first extensive examination of various organs in such cases of triplet chimerism.

Another form, microchimerism, is more prevalent than trigametic chimerism. It occurs when maternal cells invade the fetus or vice versa during pregnancy and can also happen when siblings exchange cells.

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Source: www.newscientist.com

Chronic Fatigue Syndrome May Have a Significant Genetic Influence.

Posted on December 17, 2025 by

Chronic fatigue syndrome has multiple influencing factors, with genetics starting to emerge as a key player.

Anusorn Nakdee/Getty Images

Recent research is illuminating how genetics contributes to the development of chronic fatigue syndrome, also known as myalgic encephalomyelitis (ME/CFS). This latest study, the most extensive of its kind to date, identifies over 250 genes, significantly outpacing previous discoveries. The findings paves the way for targeted treatments for ME/CFS and enriches our understanding of how it varies from conditions like long COVID-19.

“We are exploring numerous possibilities, including new treatment options and repurposing existing medications,” remarks Steve Gardner of Precision Life in Oxford.

ME/CFS is a chronic and often debilitating illness characterized primarily by severe fatigue following even minor exertion. The cause is often linked to infections, yet not every individual exposed to these infections goes on to develop symptoms.

To deepen the understanding of this condition, Gardner’s team analyzed genomic information from over 10,500 individuals diagnosed with ME/CFS. This data originated from the DecodeME project, which notably found that patients with ME/CFS possess distinct genetic characteristics when compared to individuals without the disorder.

Subsequently, Gardner and colleagues cross-referenced this data with information from the UK Biobank, focusing on genetic variations known as single nucleotide polymorphisms (SNPs), which occur when one letter of the genetic code is altered.

While traditional analyses often evaluate one SNP at a time, Gardner notes, “The complexity of disease biology doesn’t operate that way. Multiple genes interact, with some enhancing and others diminishing each other’s effects.”

In a different approach, the researchers sought groups of SNPs linked to the risk of developing ME/CFS, uncovering 22,411 such groups drawn from 7,555 combinations of SNPs, out of an extensive dataset of over 300,000. They also discovered that individuals with a higher count of these SNP groups faced an increased likelihood of developing ME/CFS.

“This is where their progress begins,” adds Jacqueline Cliff from Brunel University, London.

The researchers proceeded to map the SNPs to 2,311 genes. Each gene plays a subtle role in an individual’s risk, culminating in the identification of 259 “core” genes that had a robust association with ME/CFS and contained the most frequently observed SNPs. This represents a profound advancement from the earlier August study, which identified only 43 genes.

“For drug discovery, it’s essential to focus on variants with greater prevalence and significant effect sizes,” Gardner states. While there are currently no specific medications for ME/CFS, symptomatic treatments like pain relievers and antidepressants may be offered, along with resources for energy management.

Danny Altman, a professor at Imperial College London, expresses optimism that investigations like this will highlight the severe impact of ME/CFS, a condition that has long been misunderstood. “We are gaining momentum in understanding genomics and pathophysiology.”

Previous studies have sought to pinpoint genetic risk factors for ME/CFS, but often duplicated findings. “It’s primarily about scale and statistical power,” explains Altman, emphasizing that inadequate sample sizes can overlook significant genetic signals.

In August, DecodeME researchers indicated several mutations in eight genomic regions, identifying 43 genes with links to ME/CFS risk, though not all could be validated in independent datasets. Nevertheless, PrecisionLife verified all eight regions, reinforcing their status as legitimate risk factors for the ailment.

ME/CFS is frequently compared to long COVID, given that both arise from infections and frequently result in post-exertional fatigue. In this recent study, researchers aimed to explore the connections between these conditions by analyzing gene lists associated with ME/CFS against those linked with long COVID-19. “Approximately 42 percent of the genes identified in long COVID-19 have been demonstrated in multiple cohorts of ME,” Gardner observes, underscoring the partially overlapping nature of these two diseases.

Despite this, Cliff cautioned that differing analyses of long COVID patients limit researchers’ confidence in the outcomes. The authors indicate that their genetic overlap findings represent a “minimal estimate,” implying a greater genetic similarity than previously assumed between these conditions.

Altman and his colleagues, including Rosemary Boyton, have recently secured £1.1 million in funding to explore the potential links between ME/CFS and long COVID-19. The focus will be on recruiting individuals with both conditions to conduct a comprehensive analysis that includes an overview of participants’ health, the immune system, and aspects such as latent viruses within the body and gut microbiome, believed to be contributors to these symptoms.

By delving into the mechanisms behind ME/CFS and long COVID, as well as individual variations, Altman aspires to create tailored interventions.

topic:

genetics/
chronic fatigue syndrome

Source: www.newscientist.com

Genetic Breakthrough Enables Malaria-Resistant Mosquitoes to Clear Crucial Test

Posted on December 11, 2025 by

Research conducted on Anopheles mosquitoes, native to Tanzania, shows promising results in malaria control.

James Gathany/CDC via AP/Alamy

SEI 277528528 — Research conducted on Anopheles mosquitoes, native to Tanzania, shows promising results in malaria control.

James Gathany/CDC via AP/Alamy

A genetic technology known as gene drive has the potential to aid in malaria prevention by transferring genes to wild mosquitoes that inhibit parasite transmission. Recent tests in a Tanzanian lab have indicated that one specific gene drive could be effective if released within the country.

“This technology is poised to be transformative,” states George Christofides from Imperial College London.

Typically, a portion of an organism’s DNA is passed to only half of its offspring due to the halving of DNA in eggs or sperm. By enhancing this inheritance rate using gene drives, small segments of DNA can proliferate swiftly within a population, even if they do not confer any evolutionary advantages.

Many natural gene drives function through various means, potentially even in some human communities. In 2013, scientists engineered an artificial gene drive utilizing CRISPR gene-editing technology, allowing DNA segments to be copied from one chromosome to another.

The objective is to disseminate DNA segments that impede malaria transmission, but the question remains: which segments? Christofides revealed in 2022 that the development of malaria parasites in mosquitoes could be notably curtailed by two small proteins, one derived from honeybees and another from Xenopus. The genes linked to these anti-malarial proteins correspond with those that produce enzymes aiding in blood digestion, so the proteins are synthesized post-blood meal, secreted into the intestine.

However, these tests used lab strains of mosquitoes and malaria pathogens collected decades ago, leaving uncertainty regarding the effectiveness of this method in contemporary Africa.

Currently, Christofides and Dixon Rwetoihera from the Ifakara Health Research Institute in Tanzania have updated local data. The Anopheles gambiae mosquitoes, derived from this strategy, produced gene drive components that were maintained separately to prevent spreading, all within a secure setting.

Initial tests revealed significant suppression of malaria parasites collected from infected children, alongside successful gene replication for anti-malarial proteins. “We can now confidently assert this technology has field application potential,” states Christofides.

The forthcoming phase involves releasing mosquitoes that create anti-malarial proteins onto islands in Lake Victoria and monitoring their behavior in a natural setting. Rwetoijela notes that the team is conducting risk assessments and engaging local communities. “Thus far, political and public backing has been robust.”

The expectation is that gene drives will significantly contribute to the eradication of malaria in endemic regions. A. gambiae is the only species responsible for malaria transmission, and “gene drives could change the course,” claims Christofides.

Multiple organizations are also exploring gene drives for malaria control, alongside various strategies aimed at managing other pest populations.

Genetically modified mosquitoes have already been deployed in certain countries to manage wild mosquito numbers, but these strategies generally depend on continuously releasing high quantities of insects.

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Unveiling the Origins of Domestic Cats: Insights from Genetic Analysis

Posted on November 27, 2025 by

Domestic cats trace their lineage back to North African wildcats

Maria Boyko/Alamy

Research indicates that domestic cats originated in North Africa, subsequently dispersing to Europe and East Asia over the last 2000 years, a timeline earlier estimates had not suggested.

The domestic cat (Felis catus) has its roots in the African wildcat (Felis lybica lybica) and is now present on every continent apart from Antarctica.

Prior studies proposed that domestic cats might have first appeared in the Levant, potentially arriving in Europe around 9600 BC.

Claudio Ottoni, a professor at Tor Vergata University in Rome, along with his team, examined 225 ancient cat remains from around 100 archaeological sites across Europe and present-day Turkey. This research yielded 70 ancient genomes that spanned over 10,000 years, dating from the 9th millennium BC to the 19th century AD. They also investigated museum specimens and 17 modern ocelot genomes from Italy, Bulgaria, Morocco, and Tunisia.

The oldest genetically identified cat from this research was sourced from Sardinia and dated to the second century AD, categorized as an African wildcat or domestic cat. All early European specimens were genetically determined to be European wildcats (Felis silvestris).

This research implies that the spread of domestic cats occurred significantly later than previously believed.

Ottoni emphasized that Mediterranean civilizations during the first millennium BC played a crucial role in the relocation of African wildcats, involving at least two genetically distinct populations. One group likely consisted of wildcats introduced to Sardinia from northwest Africa, establishing the current wildcat population on the island, while the other formed the genetic basis of modern domestic cats.

“Initially, during the domestication phase, cats likely adapted well to human surroundings,” he explains. “Their ecological flexibility enabled them to thrive. They have coexisted with humans in various urban and suburban areas and even traveled with them over great distances, showcasing their evolutionary success.”

Leopard cats (Prionailurus bengalensis) cohabited with humans in ancient China

Tuchart Duando/Getty Images

In a related study, Luo Shujing and her team from Peking University investigated 22 sets of feline remains from China, dating back over 5,000 years, while analyzing genomes from 130 modern and ancient Eurasian cat specimens. They identified a different wildcat species, the leopard cat (Prionailurus bengalensis), which is native to East Asia.

“These cats were likely drawn to human settlements due to the abundance of rodents, but they were never genuinely domesticated,” states Luo.

The findings show that true domestic cats made their way to China significantly later, around 1,300 years ago during the Tang Dynasty. Genomic data connects these cats to those originating from the Middle East and Central Asia, suggesting they arrived in China via the Silk Road through traders.

Despite a relationship that lasted over 3,500 years, leopard cats were ultimately never domesticated and reverted to their natural habitats, according to Luo.

“We often get inquiries from the public about whether it’s feasible to keep these adorable ocelots as pets, particularly if raised from youth,” she remarks. “My straightforward response is: Forget it. Our ancestors tried for over 3,000 years and didn’t succeed.”

Cairo and Alexandria, the forerunners of ancient science: Egypt

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Unraveling Polycystic Ovary Syndrome: New Insights into the Genetic Causes of PCOS

Posted on November 4, 2025 by

Visual representation of polycystic ovary syndrome showing enlarged ovaries

Science Photo Library / Alamy

Recent research has begun to shed light on the genetics behind polycystic ovary syndrome (PCOS), paving the way for potential new therapies.

PCOS affects up to 20% of women, leading to disrupted ovarian function characterized by at least two of the following: irregular or absent periods, elevated male hormones like testosterone, and the accumulation of immature eggs within cyst-like ovaries. Consequently, it can result in fertility challenges.

While the exact causes remain unclear, PCOS is believed to correlate with changes in the gut microbiome and hormonal imbalances during prenatal development. The condition also appears to have a hereditary component, with studies indicating that 70% of the risk is genetic. However, researchers have only pinpointed about 25 genetic mutations impacting sex hormone production and ovarian function, explaining roughly 10% of an individual’s risk.

To address this knowledge gap, Qiao Shigang and colleagues at Shandong University in Jinan, China, conducted a genomic study involving over 440,000 women from China and Europe, out of which 25,000 were diagnosed with PCOS, marking the largest gene analysis related to the condition to date.

The researchers discovered 94 genetic variants that appear to contribute to PCOS risk, with 73 being previously unrecognized. Notably, one mutation affects the gene responsible for the mitochondrial ribosomal protein S22, essential for mitochondrial function, an area that Zhao points out has connections in earlier studies discussing the link between PCOS and mitochondrial dysfunction.

Another newly identified variant impacts sex hormone-binding globulin, a protein that moderates the activity of sex hormones and is often found at reduced levels in women with PCOS.

Several of the remaining variants influence the function of granulosa cells in the ovaries, responsible for producing estrogen and progesterone and aiding in egg development during the menstrual cycle. This supports the hypothesis that PCOS is genetically influenced by fluctuations in sex hormone levels, according to Zhao.

In summary, the research indicated that these 94 mutations account for around 27% of the risk variation in PCOS among European participants and about 34% in the Chinese cohort.

“This study is significant because it enhances our understanding of the genetic factors associated with this condition,” remarks Elisabeth Stenner-Victorin from Karolinska Institutet, Sweden. Furthermore, it underscores the necessity of including diverse ancestral backgrounds in PCOS genetic research, according to Zhao.

Ultimately, the team identified medications that could modify the pathways affected by the recognized mutations. Some of these, like clomiphene, are already used for PCOS treatment; they stimulate ovulation which is often hampered by the syndrome. Additionally, the team discovered that betaine—sometimes utilized for homocystinuria treatment—might also benefit PCOS patients. Future studies using mice exhibiting PCOS-like symptoms could explore this treatment potential.

“Current treatments focus on alleviating symptoms, as there aren’t any medications that can cure PCOS,” states Stenner-Victorin. Typical interventions include clomiphene, contraceptive pills to manage periods, and metformin, a type 2 diabetes medication that may enhance fertility. However, effectiveness varies among individuals. “Identifying genetic clusters that affect PCOS risk will be essential for developing more targeted treatment strategies for these women,” she adds.

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Source: www.newscientist.com

Standard IVF Tests Overlook Certain Genetic Abnormalities in Embryos

Posted on October 23, 2025 by

Colored light micrograph of a human embryo following in vitro fertilization

Zephyr/Science Photo Library

During in vitro fertilization (IVF), embryos are subjected to genetic screening prior to being placed in the uterus. Recent studies, however, have shown that the common tests may fail to identify genetic abnormalities arising shortly before implantation. The implications for choosing embryos that are likely to lead to a healthy pregnancy remain uncertain.

This process, known as preimplantation genetic testing for aneuploidy (PGT-A), is conducted about 5 to 6 days after fertilization. It involves extracting cells from the embryo’s outer layer to assess for chromosomal irregularities, which can elevate the risk of miscarriage. However, this testing only captures a moment in time, as cellular division continues and may introduce genetic changes prior to implantation.

To address this gap, Ahmed Abdelbaki and his colleagues at the University of Cambridge monitored the progress of human embryos 46 hours post-thawing, replicating the timeline from evaluation to implantation. Typically, the embryo takes 1 to 5 days to implant after being transferred to the uterus. Given that embryos are highly sensitive to the light from traditional microscopes, prior studies only managed to observe them for about 24 hours. The research team employed light-sheet microscopy, a technique that illuminates only a thin slice of the embryo at once, minimizing light exposure and enabling longer observation durations.

In their experiment, the researchers injected 13 human embryos with a fluorescent dye that attaches to DNA, facilitating real-time tracking of genetic abnormality formation. They recorded the division of 223 cells and discovered that 8% exhibited chromosomal misalignment. This misalignment occurs when chromosomes improperly arrange themselves before cell division, significantly raising the likelihood of creating cells with abnormal chromosome counts, potentially hindering implantation, increasing miscarriage risk, and leading to conditions such as Down syndrome.

This indicates that genetic changes might arise later. “These variances appear in the embryo subsequent to PGT-A screening,” stated Lily Zimmerman from Northwell Health in New York.

These chromosomal errors were restricted to the outer cell layer responsible for forming the placenta, rather than the central cells that mature into the fetus. Previous findings suggest that successful pregnancies can occur even with certain genetic abnormalities in the outer cells. Thus, Abdelbaki posits that these genetic errors may not detrimentally impact the embryo’s survival chances.

“In my view, this study highlights the necessity for further research in embryo screening. It’s not simply a matter of categorizing embryos as genetically normal or abnormal,” commented Professor Zimmerman. She also noted that it remains unclear how genetic alterations occurring between screening and implantation might influence embryo viability, and given that the study examined only a small sample of embryos, the broader applicability of these findings is uncertain.

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Source: www.newscientist.com

Neanderthal-Human Hybrids Likely Experienced Genetic Incompatibilities

Posted on October 20, 2025 by

Model of a Female Neanderthal

Joe McNally/Getty

Although modern humans are thought to have driven Neanderthals extinct, it was not simply through conflict or violence. New research indicates that the genetic incompatibility from interbreeding between the two species may have led to increased chances of pregnancy failure in hybrid mothers. This genetic mismatch could also provide insights into some contemporary pregnancy failures.

Studies in genetics reveal that there was ongoing interbreeding between Homo sapiens and Neanderthals around 50,000 to 45,000 years ago. While Neanderthals became extinct approximately 41,000 years ago, remnants of their DNA endure in modern humans of non-African ancestry, accounting for about 1 to 2 percent of their genetic makeup.

Interestingly, no mitochondrial DNA from Neanderthals is found in modern humans. Mitochondrial DNA is inherited exclusively from the mother, as it is carried only in the egg cell, not in sperm.

Patrick Eppenberger and his team at the University of Zurich in Switzerland propose a possible reason for this phenomenon. They suggest that mothers with Neanderthal and Homo sapiens ancestry faced a higher probability of pregnancy loss due to genetic mismatches between their genes and those of the developing fetus.

Variations of the gene Piezo 1, crucial for oxygen transport in the bloodstream, existed among Neanderthals and Homo sapiens. The researchers conducted analyses on DNA from both groups and constructed models of how the PIEZO1 protein interacted based on these differences. They also experimented with human red blood cells in laboratory settings, simulating effects caused by Neanderthal genes.

The findings revealed that the Neanderthal variant V1 of red blood cells exhibited a stronger binding affinity for oxygen compared to the V2 variant of Homo sapiens. The dominance of V1 implies that individuals inheriting both V1 and V2 would have red blood cells highly efficient at oxygen transport.

This suggests that a fetus conceived from a Neanderthal and a Homo sapiens mother could have been healthy, but complications might have arisen in the subsequent generations. A hybrid mother carrying a fetus with two copies of V2 would struggle to deliver sufficient oxygen through the placenta, potentially stunting fetal development and heightening miscarriage risks.

In their study, Eppenberger and colleagues assert that such incompatibilities could have led to lower fertility rates among Neanderthals. They wrote, “Over thousands of years of cohabitation, even minimal gene flow from modern humans into Neanderthal populations may have gradually introduced reproductive disadvantages that intensified over generations.”

This situation was likely less problematic for Homo sapiens, as their population numbers were significantly greater. Even though Neanderthal DNA could likely integrate through paternal lines, V1 variants would be swiftly purged by natural selection. This could clarify why Neanderthal nuclear DNA has persisted in some humans, while their mitochondrial DNA has not.

Researchers also pointed out that, while modern human mitochondrial DNA does not come from Neanderthals, instances of similar mutations in the Piezo 1 gene can still result in unexplained miscarriages today due to gene incompatibilities between mothers and fetuses.

Sally Wassef from the Queensland University of Technology in Brisbane, Australia, remarked that the newfound understanding of second-generation incompatibilities offers valuable insights. “Even minor reproductive disadvantages can lead small populations below their replacement levels, triggering declines and potentially leading to extinction in vulnerable environments,” she notes.

“However, I view this finding as merely one piece of a larger puzzle,” she adds. “While its impacts are subtle, there are likely other ecological and social factors at play.”

Laurits Skov at the University of Copenhagen in Denmark shared that multiple elements likely contributed to the extinction of Neanderthals, including climate change, the emergence of modern humans, small Neanderthal populations, new disease introductions, and genetic incompatibility.

Skov further expressed skepticism about the notion that this disparity in oxygen affinity stems from a singular mutation within the Piezo 1 gene, as proposed by the researchers.

“Further research is essential to accurately evaluate the implications of this mutation and the effects of differing maternal and fetal gene profiles,” he emphasizes, “as well as to determine its potential role in Neanderthal extinction.”

Neanderthals, Ancient Humans, and Cave Art: France

Join New Scientist’s Kate Douglas on a captivating journey through time, exploring significant Neanderthal and Upper Paleolithic sites in Southern France, from Bordeaux to Montpellier.

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Will a Ban on Genetic Engineering in Wildlife Hinder Conservation Efforts?

Posted on October 6, 2025 by Igor Mitreski

The concept of genetically modifying wild lions sparks debate

Andrewfel/Shutterstock

Is there a need to genetically modify wild lions? While it may seem unnecessary, it provokes a quick reaction. Consider a scenario where a devastating disease, introduced by humans, threatens their survival. What if genetic alterations could boost immunity against this disease, providing a natural evolution path through time as more lions perish?

This debate is fracturing the environmentalist community, with discussions set to intensify. Next week, at a meeting of the International Union for Conservation of Nature (IUCN)—the leading conservation organization—delegates will vote on a proposal to “suspend” genetic engineering in wildlife, including the introduction of modified microorganisms.

“I’m uncertain how the voting will unfold,” says Piero Genovesi from the Italian Institute of Environmental Protection, who backs an open letter opposing the proposal.

While the IUCN’s moratorium on synthetic biology carries no legal weight, it may still have significant repercussions. Various conservation organizations might halt projects involving genetic engineering, and some nations could incorporate such restrictions into their laws.

“Moratoriums would undoubtedly pose challenges on various fronts,” states Ben Novak, of the US-based nonprofit Revive & Restore, which aims to leverage biotechnology for the recovery of endangered and extinct species.

Why is this issue gaining attention now? The answer lies in CRISPR. In 2014, the potential for gene drives using CRISPR technology was demonstrated. Gene drives allow specific DNA segments to be passed down through generations, enabling them to spread even if detrimental. This technology could theoretically eliminate invasive species or spread beneficial traits like disease resistance.

Discussions emerged at a 2016 conference in Hawaii regarding employing gene drives to eradicate invasive mosquitoes that have decimated Hawaii’s native bird species, according to Genovesi. Reactions were mixed; some were enthusiastic, while others expressed deep concern.

This tension led to the proposed moratorium. “Gene drives are being promoted by some as a one-size-fits-all solution to environmental issues,” mentions Ricarda Steinbrecher from Econex, an organization also advocating for the moratorium.

However, the broad language of the proposed motion could affect much more than just gene drives. It might unintentionally restrict passive conservation efforts and the use of live vaccines.

Steinbrecher suggests the moratorium is a temporary halt, indicating another vote may take place later “when more data becomes available.” However, with many proponents of the ban being staunchly against genetic engineering, changing their perspectives may be challenging. “I’m concerned it could lead to an extended pause,” Genovesi states.

Imagine the prospect of using gene editing to make wild animals disease-resistant. While Steinbrecher raises concerns about unintended consequences, current evidence suggests the risks remain low. This is why some genetically edited foods are already being consumed, and the first CRISPR therapy received approval last year.

The same considerations regarding benefits and risks are applicable to conservation efforts. For instance, is it preferable to witness global warming decimating coral reefs rather than releasing genetically engineered symbiotic algae to enhance coral heat tolerance?

The scalability of such endeavors is crucial, asserts Novak. Manual transplanting of corals will not be enough to salvage the reefs. “Synthetic biology tools are essential for achieving the broad objective of restoring 30% of land and saving seed varieties,” he emphasizes.

Ultimately, this discourse revolves around conflicting visions of nature. Some regard it as a pristine entity, wary of genetic modification. Nonetheless, humans have already altered nature significantly. Our actions have unintentionally interfered with genetic selection through practices like hunting, pollution, pesticide use, and the introduction of invasive species and diseases.

These actions necessitate adaptations among many species for their survival; for instance, specific elephant populations are now nearly devoid of tusks.

However, this does not imply that further interference will yield positive outcomes. The release of gene drives carries significant risks, such as their potential spread beyond intended targets.

Researchers are cognizant of these hazards. Methods like self-limiting gene drives can be implemented to prevent unrestrained gene dispersion.

“We are confronted with a severe biodiversity crisis,” Genovesi argues. “We shouldn’t close ourselves off to innovative tools that could assist us in combatting substantial threats.”

Conservation and Rewilding in the Central Apennines: Italy

A journey through Italy’s central Apennines introduces the practical realities and philosophy behind rewilding.

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Autism Could Have Distinct Genetic Subtypes

Posted on October 1, 2025 by Igor Mitreski

Indicators of autism in children may involve excessive talking with peers and challenges in forming friendships.

Jagadeesh NV/EPA-EFE/SHUTTERSTOCK

SEI 268486476 — Indicators of autism in children may involve excessive talking with peers and challenges in forming friendships.

Jagadeesh NV/EPA-EFE/SHUTTERSTOCK

The timing of an autism diagnosis in children seems to be influenced by genetic factors, which may also affect how the condition progresses.

“This reinforces the notion that autism could be a potentially multifaceted condition,” states Natalie Sauerwald from the Flatiron Institute in New York, who was not involved in this particular research.

Autism is classified as a neurodevelopmental disorder, characterized by challenges with social interactions and restricted behaviors and interests. The World Health Organization estimates that 1 in 127 individuals are diagnosed with autism.

“Our key inquiry was why some individuals are diagnosed with autism later in life?” posits Varun Warrier from Cambridge University.

To explore this, he and his research team gathered data from individuals diagnosed with autism between the ages of 5 and 17. Caregivers filled out a survey regarding their social, emotional, and behavioral growth, which aided the researchers in determining the correlation between these factors and the age of diagnosis.

Previous studies have linked children’s gender and socioeconomic status to the age of diagnosis, with autism being more frequent in boys and those from affluent backgrounds. However, the team’s analysis indicated that these influences were minimal, with “Typically, no single factor accounts for more than 10% of the variance,” Warrier observes.

Contrarily, the researchers discovered that children with autism displayed different developmental trajectories. “Our findings indicate that individuals with autism can be categorized into two broad groups,” Warrier explained. One group faced challenges from an early age that remained relatively constant, while the other group encountered fewer issues during childhood, but faced increased difficulties in later childhood or early adolescence—this represents “anywhere between 10-25% of the diagnosis age for autism.”

Moreover, the study found that differences between these two groups were observable in previously collected DNA samples. Those diagnosed with autism were more prone to have common genetic variations different from those diagnosed later, which accounted for 11% of the variance in autism diagnosis age. However, the researchers lacked the necessary data to identify rare variants or spontaneous mutations beyond inherited ones.

Despite these distinct trajectories, there is no clear separation between them, says Sauerwald. “The overlap between groups likely occurs because they are not entirely distinct,” she remarks. Warrier agrees, describing the categories as “gradients.”

He stresses that neither group should be regarded as having milder or more severe forms of autism. In July, Sauerwald and her team released a study indicating evidence of four moderately different groups whose symptoms, behaviors, and genetics differ.

Warrier’s research team also identified a higher likelihood of genetic mutations linked to other disorders, such as ADHD and PTSD, in children diagnosed later in life. Similarly, Sauerwald’s study found a connection between late autism diagnosis and ADHD. However, the reason for this link remains unclear, says Sauerwald. “The findings related to ADHD are not unexpected,” she comments, particularly concerning specific symptoms.

A deeper understanding of the potential subtypes of autism could ultimately enhance diagnostic practices and offer more personalized support for children with autism and their families. “Improving our understanding of their condition and how to assist them can only lead to a better quality of life for individuals,” asserts Warrier.

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Source: www.newscientist.com

Ancient DNA Reveals Greater Genetic Diversity in Mastodons Than Previously Thought.

Posted on September 16, 2025 by Igor Mitreski

Research utilizing ancient DNA has shed light on the complex evolutionary ties and ecological responses of elephants and their relatives. In a recent study, scientists sequenced the mitochondrial genomes of various mastodons, including five specimens from Nova Scotia and the East Coast—one dating back approximately 500,000 years—as well as a unique specimen of Pacific Mastodon from Chulatin, Oregon, and a partial mitochondrial genome from North Ontario. Their findings indicate that Pacific mastodons belong to distinct and deep mitochondrial lineages, indicating this species’ range extended into western Canada and potentially even Mexico. Additionally, the authors discovered evidence of at least three separate expansions into the northeastern coastal region and identified two new groups of mastodons with clear, geographically coinciding specimens.

Adult Mastodon (Mammuthus sp.) consumes spruce branches, set against a backdrop that suggests periodic continental migrations related to climate change. During the Middle and Late Pleistocene, at least two types of mastodons roamed North America: the American mastodon, spanning from the East Coast to central regions, and the Pacific mastodon, found from central Alberta to central California. Image credit: Kathryn Kilukki.

Mastodons were originally classified into numerous separate species but were later consolidated into one, the American Mastodon (Mammut americanum).

Recent classifications have been updated to potentially recognize at least two distinct species: American mastodon and Pacific mastodon (Mammut pacificus), with ongoing debates regarding their division.

Genetic analyses confirmed that Pacific mastodons are ancient and belong to separate genetic lineages that extend further than previously thought.

Notably, Alberta emerged as a “hotspot” where Pacific and American mastodons may have gathered, expanding northward and hybridizing.

Samples collected from the East Coast and northern Ontario revealed two genetically distinct groups, referred to as mastodon clades, cohabiting the same geographic area.

Surprisingly, the eastern species exhibit significant diversity, reflecting at least three distinct waves of migration. This pattern is driven by repeated climatic warming events that opened new areas for glacial retreat and northward movement.

As temperatures decreased and glaciers expanded, mastodons were either forced southward or faced local extinction.

“The data reframes our understanding of the modern regions known as Alberta and the North, highlighting their role as migratory corridors for surrounding fauna,” the researchers noted.

Moreover, a unique and genetically distinct lineage of Mexican mastodon was identified, possibly representing a deeper evolutionary branch of the Pacific mastodon or even a brand-new third species.

During the Ice Age, the mastodon was among the largest terrestrial animals on the planet, traversing a range from Beringia (now Alaska and Yukon) through Nova Scotia and south to Central Mexico.

These creatures primarily foraged in wetlands, consuming shrubs and branches, and inhabited environments quite different from those of their well-known distant relatives, the woolly mammoths.

“This study marks significant milestones, including advancements in our understanding of the Pacific Mastodon,” stated Emil Kalpinski, a researcher at Harvard Medical School.

“It also raises numerous intriguing questions: How did these distant mastodon species interact within Alberta?”

“Did they compete for resources or, as our lab’s earlier research indicated for mammoths, engage in breeding?”

“These revelations, in conjunction with findings from our 2020 study, enrich our understanding of how mastodons migrated and diversified across North America, aiding contemporary conservation efforts in preparing for ongoing climate change and migratory species in the North,” the researchers concluded.

Their paper was published on September 12, 2025, in the journal Advances in Science.

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Emil Kalpinski et al. 2025. Repeated climate-driven dispersion and speciation in peripheral populations of Pleistocene mastodon. Advances in Science 11 (37); doi:10.1126/sciadv.adw2240

Source: www.sci.news

Study: Neanderthal-Inherited Genetic Mutations Decrease Major Muscle Enzyme Activity

Posted on August 13, 2025 by Igor Mitreski

An AMPD1 variant from Neanderthals reduces enzyme activity by 25% in lab-produced proteins and up to 80% in muscles of genetically modified mice. This variant is present in all sequenced Neanderthals but absent in other species. It entered the modern human gene pool through interbreeding approximately 50,000 years ago, leading to its presence in up to 8% of today’s Europeans.

Maccak et al. Research indicates that genetic variants inherited from Neanderthals impair essential enzyme functions in muscle performance. Image credit: Holger Neumann/Neanderthal Museum.

The enzyme AMPD1 is crucial for muscle energy production and overall muscle function.

A decrease in its activity due to genetic mutations is the leading cause of metabolic myopathy in Europeans, with a prevalence of 9-14%.

In a recent study led by Dr. Dominik Macak from the Max Planck Institute for Evolutionary Anthropology, researchers compared ancient Neanderthal DNA with modern human genomes.

They discovered that all Neanderthals have specific AMPD1 variants absent in other species.

Enzymes produced in the lab with this variant exhibited a 25% decrease in AMPD1 activity.

In genetically modified mice, this reduction in muscle tissue activity reached 80%, negatively affecting enzyme performance.

Moreover, the study shows that modern humans acquired this variant from Neanderthals who lived in Europe and Western Asia before interacting with modern humans around 50,000 years ago.

Currently, approximately 1-2% of non-African individuals carry Neanderthal DNA.

The Neanderthal AMPD1 variant is found in 2-8% of Europeans today, indicating general acceptance in the gene pool.

“Interestingly, most individuals with these variants do not face serious health concerns,” noted Dr. McCuck.

“However, enzymes seem to significantly influence athletic performance.”

Analysis of over 1,000 elite athletes across diverse sports showed that those with non-functional AMPD1 are less likely to reach the highest athletic levels.

“Having defective AMPD1 enzymes decreases the chances of achieving elite athletic ability by half,” Dr. McCuck said.

While AMPD1 activity appears to have moderate significance in contemporary Western societies, it becomes crucial under extreme physical conditions, such as those faced by athletes.

Researchers highlight the need for studying genetic variation within physiological and evolutionary contexts to grasp biological implications.

“Cultural and technological advancements in both modern humans and Neanderthals may have lessened the necessity for extreme muscle performance,” explains Dr. Hugo Zeberg, a researcher at the Max Planck Institute for Evolutionary Anthropology and Karolinska Institute.

“Understanding how current gene variants influence human physiology can yield valuable insights into health, performance, and genetic diversity.”

Survey results were published in the journal Natural Communication on July 10, 2025.

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D. McCuck et al. 2025. Muscle AMPD1 exhibited reduced deaminase activity in Neanderthals compared to modern humans. Nat Commun 16, 6371; doi:10.1038/s41467-025-61605-4

Source: www.sci.news

Significant Genetic Variations Identified in Individuals with Chronic Fatigue Syndrome

Posted on August 7, 2025 by Igor Mitreski

Genetics could play a significant role in the development of chronic fatigue syndrome or myalgic encephalomyelitis.

BlackJack3D/Getty Images

Recent large-scale studies have identified genetic factors that might increase the risk of developing chronic fatigue syndrome (CFS), also known as myalgic encephalomyelitis (ME). Researchers have associated eight regions of the human genome with this condition based on DNA analyses from over 15,000 affected individuals.

“Our research offers the first strong evidence for genetic influences,” says Sonya Chowdhury from the UK charity Action for ME.

In the long term, these findings may aid in creating new diagnostic tools and treatments for ME/CFS. This condition has been recognized for decades and is primarily characterized by a debilitating response to minimal exertion, often accompanied by fatigue after mental effort.

Chowdhury adds that the results provide “recognition and validation” for individuals suffering from this condition. “Many people have been dismissed with comments such as, ‘It’s not a real illness,'” she explains. “They visited doctors who often downplayed their symptoms.”

“This represents a significant breakthrough for patients,” notes Andy Devereux Cooke, co-founder of Science for ME, a forum supporting those with the condition.

The research, termed Decode, involved analysis of DNA from over 15,500 individuals with ME/CFS against approximately 260,000 samples from unaffected individuals.

“Eight genetic signals were identified,” explains Chris Ponting from the University of Edinburgh, UK. These genomic regions appear to differ significantly in individuals with ME/CFS, suggesting that genetic variants in these areas could influence the likelihood of developing the condition. The findings were announced at a press briefing but have not yet been published in scientific journals or preprint platforms.

Among these eight regions, the research team pinpointed 43 protein-coding genes, with 29 deemed particularly noteworthy. “Delving into these genetic signals reveals associations with both immune and nervous system functions,” Ponting states. “Notably, the activity of these genes is prevalent in brain tissue, indicating a potential link to nervous system involvement.”

Additionally, researchers uncovered immune system-related genes, particularly rabgap1l, which may significantly heighten the risk of CFS. This aligns with anecdotal reports from many individuals with the condition, who often cite prior mild infections as precursors to their symptoms.

“I believed there was something distinct about the immune systems of individuals suffering from ME/CFS,” comments Jackie Cliff from Brunel University in London, noting that this study represents a substantial advancement in ME/CFS research.

Despite the fact that ME/CFS is significantly more prevalent in women, this study found no differences in genetic susceptibility between men and women. However, the team has yet to analyze the X and Y sex chromosomes.

The next steps involve examining these eight genome regions in greater depth to comprehend how genetic variations translate into molecular and cellular processes, both with and without ME/CFS. This could potentially pave the way for diagnostic tests and targeted treatments addressing the fundamental mechanisms of the disorder. However, this progress is contingent upon securing research funding, which is currently limited, says Cliff.

ME/CFS is estimated to impact 67 million individuals globally. A 2017 report from Think Tank 20/20 Health estimated that it incurs costs of £3.3 billion annually to the UK economy due to decreased productivity and healthcare expenses. “It’s an overlooked and marginalized illness that deserves attention and investment,” emphasizes Ponting.

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Source: www.newscientist.com

Babies Created with Three DNA Sources Are Free from Genetic Disorders

Posted on July 18, 2025 by Igor Mitreski

The baby became pregnant via IVF

Zephyr/Science Photo Library

Eight young children seem to be shielded from severe genetic disorders following their birth through a three-parent DNA technique. This method involved replacing defective maternal mitochondria with those from a female donor.

Approximately 1 in 5,000 individuals carry mitochondrial defects that provide energy to cells and are inherited solely from the mother. Such defects may result from genetic mutations leading to issues like blindness, seizures, and, in extreme cases, death. “Families find it incredibly challenging to cope with these diseases. They are heart-wrenching,” states Bobby McFarland from Newcastle University, UK.

In 2015, the UK first sanctioned a procedure called pronuclear transfer for women at high risk of passing on mitochondrial conditions, particularly those who cannot benefit from pre-implantation genetic testing.

This nuclear transfer technique utilizes eggs from both mothers and donors, which are fertilized with paternal sperm via IVF. After roughly 10 hours, the nuclei from both eggs are extracted, leaving behind the crucial genetic material that is separate from mitochondrial DNA.

The nucleus from the mother is subsequently inserted into the donor’s egg, yielding an embryo that primarily inherits DNA from its biological parent while acquiring mitochondria from the donor. Some mitochondrial DNA from the mother may still be unintentionally transmitted, according to Burt Smeet from Maastricht University in the Netherlands.

McFarland, who pioneered this method with her team, has applied the technique to 19 women harboring harmful mutations in over 80% of their mitochondria, typically the level that causes issues.

Seven of the women achieved pregnancy after the final embryo transfer, resulting in eight healthy births, including one pair of twins.

The researchers evaluated blood samples from the newborns, finding no harmful mitochondrial DNA mutations in five, and only trace levels in the remaining three. “The results have exceeded expectations,” says Mike Murphy from Cambridge University.

In the months or years following these nuclear transfers, all children have shown progress with developmental milestones. However, some may encounter complications that may or may not be linked to the procedure. For instance, one child developed high blood fat levels and an abnormal heartbeat, both of which were successfully addressed, while another experienced epilepsy at 7 months old, which resolved on its own.

The research team plans to monitor these children to assess the long-term consequences of the procedure.

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Source: www.newscientist.com

Life-Saving Treatments for Fatal Genetic Disorders Through Brain Immune Cell Replacement

Posted on July 10, 2025 by Igor Mitreski

Microglia are specialized immune cells in the brain

Science Photo Library/Alamy

The process of replacing immune cells in the brain halts the advancement of a rare and terminal brain disorder known as ALSP. This also paves the way for future clinical trials targeting other neurological ailments.

Extensive research indicates that impaired microglia—specialized immune cells within the brain—play a role in various neurological disorders, including Alzheimer’s disease and schizophrenia. The term ALSP stands for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by mutations in genes responsible for the survival of these cells, resulting in a reduced number of microglia and leading to progressive cognitive decline. Currently, no effective treatment exists for this fatal illness.

To address this, Bo Peng from Fudan University in China and his team employed a novel treatment called microglia replacement therapy. Prior experiments in rodents have shown that implanted stem cells—capable of developing into different cell types—can effectively replace microglia. However, it is necessary to first eliminate existing microglia in the brain to facilitate this. This can be achieved using drugs that target protein microglia.

Pursuing this avenue, Peng and his colleagues conducted initial tests on five mice with genetic mutations analogous to those associated with ALSP. As the mutations already impacted protein microglia, the researchers did not need to deplete these proteins with medication. Subsequently, they transplanted stem cells from healthy mice into the affected mice. Fourteen months later, treated mice exhibited approximately 85% more microglia in their brains compared to six untreated mice harboring the same mutation. Notably, these treated mice also demonstrated improvements in motor function and memory.

Encouraged by these promising findings, the researchers extended the treatment to eight individuals diagnosed with ALSP, using donor stem cells without preconditions. One year post-treatment, brain scans revealed minimal changes in participants compared to scans taken before the procedure. In contrast, four untreated individuals displayed significant brain deterioration and lesions over the same period. This implies that microglial replacement therapy effectively halted the progression of the disease.

At the study’s outset, all participants underwent cognitive assessments using a 30-point scale, where a decrease in score indicated cognitive decline. Reassessments a year later showed that, on average, scores remained stable for those who received the microglia replacements.

These results point to microglial replacement therapy being a potentially effective solution for ALSP. However, since this represents the inaugural human trial, “we remain unaware of any potential side effects,” comments Peng. “Given the rapidly progressive and lethal nature of this disease, prioritizing benefits over possible side effects might be crucial.”

Chris Bennett from the University of Pennsylvania cites the historical use of stem cell transplants for treating neurological disorders. “It has demonstrated effectiveness, particularly through microglia replacement,” he states. Recent FDA approvals for two similar therapies addressing other rare brain conditions further support this. “While prior studies may not have used this exact terminology, they effectively addressed similar conditions,” Bennett elaborates. “I’d describe this as a smart and innovative application of stem cell transplants. Nonetheless, microglia replacement therapy has been evolving for decades.”

Despite this, the results underscore the broader implications of microglial replacement therapy. Experts believe this strategy could one day address more prevalent brain disorders. For example, certain genetic mutations significantly heighten Alzheimer’s disease risk and affect microglial function. Replacing these malfunctioning cells with healthy human equivalents could offer a promising avenue for treatment.

Topics:

Neuroscience /
Immune System

Source: www.newscientist.com

Concerns Arise Over Genetic Screening of Newborns for Rare Diseases

Posted on July 10, 2025 by Igor Mitreski

Rare diseases often elude early diagnosis, remaining undetected until significant organ damage occurs. Recently, UK Health Secretary Wes Streeting announced a 10-year initiative to integrate genetic testing for specific rare conditions into the standard neonatal screening process across the UK. This approach aims to ensure early intervention before symptoms manifest, aligning with ongoing global viability programs in places like the US and Australia. Yet, questions arise about the scientific validity of such measures.

The genome, akin to a book written in a novel language, is only partially understood. Decades of research on high-risk families have shed light on some genetic mutations, but there remains limited knowledge about the implications of population-level genetic testing for those at low risk. While this screening may prove advantageous for certain children and families, it might also lead to unnecessary tests and treatments for others.

Many genetic conditions involve more than just a single genetic mutation. For example, individuals with a variant of the hnf4a gene and a strong family history of rare diabetes have a 75% risk of developing the condition; conversely, those with the same variant but without a family history face only a 10% risk. It is misleading to assume genetic variants behave uniformly across all populations. Perhaps families carrying the hnf4a variant lack other unrecognized protective genes, or specific environmental factors might interplay with genetic risks to lead to diabetes.

The proposed neonatal screening program presupposes that genetic variants linked to diseases signify equally high risks for all, which is rarely the case. The exploration of disease-related variations in healthy populations is just starting. Until this research is thorough, we will not know how many individuals carry a variant that does not result in illness, possibly due to other protective factors. Should we really subject newborns to genetic hypotheses?

Furthermore, ethical concerns emerge from this initiative. How do we secure informed consent from parents when testing for hundreds of conditions simultaneously? In the near future, a genetic database encompassing all living individuals could become a reality—what safeguards will exist for its use and protection?

Screening newborns is not new, but the scope of conditions included in this initiative, the complexity of interpreting results, and the sensitivity of the information gathered pose unique challenges. I worry that parents may feel compelled to accept the test, yet not all uncertainties will be appropriately managed. I fear that important early life stages could become burdened with unnecessary hospital visits. Additionally, the pressure on parents and pediatricians to decide on potentially invasive testing for healthy infants is concerning.

A prudent step would be to gather more data on the prevalence and behavior of genetic mutations in the wider population before utilizing genetic testing as a speculative screening tool for children. The potential benefits may be overshadowed by significant risks.

Suzanne O’Sullivan is a neurologist and author of The Age of Diagnosis: Illness, Health, and Why Medicine Went Too Far.

Topic:

Source: www.newscientist.com

How Does Society Respond to Babies with Two Genetic Fathers?

Posted on June 25, 2025 by Igor Mitreski

James Watson, a Nobel Prize-winning co-discussor of the DNA double helix, remarked in 1974, “All hell is unleashed politically and morally around the globe” regarding the potential of human in vitro fertilization.

Today, more than 12 million individuals are expecting through IVF, and the world seems relatively calm. Many of us may not have fully grasped this procedure.

Yet, what about our perceptions of future reproductive technologies? This question is sparked by the recent birth of a fertile mouse with two genetic fathers. While similar experiments have previously led to the creation of both motherless and fatherless mice, this new method is notable as it does not involve genetic alterations. Typically, this could also be applicable for human use.

Various obstacles, including low success rates and the removal of DNA from numerous human eggs, explain why such advancements aren’t imminent. Nonetheless, it is essential to begin contemplating the societal implications.

For some, the notion of a child having two genetic fathers may never be accepted, just as there remains criticism towards gay couples expanding their families. Changing such perspectives may prove challenging, if not impossible.

Like IVF, what used to be front-page news could eventually become routine.

However, one can expect a broader public to exhibit a strict moral opposition to this idea, along with a general sense of unease. The inaugural child born from this method is, in many ways, distinct from all previous human beings. IVF-born children come into existence through a process unimaginable to our ancestors but continue to carry the genetic lineage from one male and one female ancestor.

Is this significant? Just like IVF, what was once front-page news may soon be commonplace. In a time when reproductive and trans rights are being restricted in the U.S., engaging in objective discourse about emerging technologies presents a greater challenge. Fortunately, these questions do not require immediate answers.

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Source: www.newscientist.com

Ancient Enamel Proteins Uncover Biological and Genetic Diversity in Paranthropus robustus

Posted on June 4, 2025 by Igor Mitreski

Paranthropus robustus is a well-documented species within the Hominin group that has yet to be associated with genetic evidence. This species thrived in what is now South Africa between 2 million and 1.2 million years ago. In a recent study, paleontologists extracted enamel protein sequences from a dental specimen, believed to be 2 million years old, discovered at the Swartkrans site in South Africa. The results indicate a greater diversity than previously recognized for Paranthropus robustus and support the potential existence of multiple species within the genus.

Paranthropus Boisei. Image credit: ©Roman Yevseyev.

Advancements in ancient DNA (aDNA) sequencing have provided essential insights into the evolutionary connections among mid- to late Pleistocene hominins. However, our understanding of the earlier Pliocene-Pleistocene species, including Paranthropus robustus, remains limited.

This limitation is primarily due to the poor preservation of aDNA in African hominin fossils older than 20,000 years.

Paranthropus robustus has traditionally been regarded as a singular evolutionary line.

Yet, morphological overlaps between Paranthropus robustus and Australopithecus raise questions about their possible evolutionary links.

Moreover, variations in dental morphology suggest either an undiscovered diversity within Paranthropus robustus or the existence of multiple distinct species.

In this study, researchers from the University of Copenhagen, the University of Cape Town, and Dr. Paresa Madupe employed more durable ancient proteins to explore the variation within this ancient human species.

Four tooth enamel proteins were analyzed using high-resolution mass spectrometry and paleontological techniques, focusing on Paranthropus robustus fossils from the Swartkrans cave.

These specimens, dating from 2.2 to 1.8 million years ago, are among the earliest known hominins.

Molecular analysis of the protein sequences revealed significant variation at the molecular level among Paranthropus robustus individuals, including evidence from both male and female fossils, challenging the reliability of tooth size as a sole indicator of sexual dimorphism and suggesting that this variance cannot be attributed exclusively to sexual differences.

Notably, one individual appears to be genetically distinct from the others, highlighting considerable intraspecies variability within Paranthropus robustus.

The results align with recent morphological evidence, indicating previously unrecognized taxonomic diversity within the genus, including the proposed species Paranthropus capensis.

“Our study illustrates how paleobiological traits can assist in distinguishing sexual dimorphism from other forms of variation in the early Pleistocene human lineage in Africa,” the authors concluded.

The study is published in the journal Science.

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Paresa P. Madupe et al. 2025. Enamel proteins reveal biological and genetic variation in southern Africa Paranthropus robustus. Science 388 (6750): 969-973; doi: 10.1126/science.adt953

Source: www.sci.news

Scientists Discover Genetic Variations Linked to Increased Cat Pairing

Posted on June 3, 2025 by Igor Mitreski

Cat (Ferris Katas) has become a beloved companion to people worldwide. Despite its widespread popularity, the genetic factors influencing its behavior have been largely unexplored. A new research team from the Kyoto University Wildlife Research Center has focused on the Androgen receptor gene (ar), located on the X chromosome, and its association with feline behaviors, such as purring.

Okamoto et al. found that male cats with short alleles displayed higher directional call/voicing scores, whereas females with short alleles exhibited increased aggression towards strangers compared to their counterparts with long alleles. Image credit: Natary Anderson.

“Cats are cherished companion animals that significantly contribute to society through their interactions with humans,” said lead author Okamoto and colleagues.

“However, most negrid species, such as the African Wildcat (Ferris Livica), have solitary ancestors, while domestic cats often form groups and display social behaviors.”

“They communicate with both humans and other cats utilizing a range of behaviors and signals, including olfactory cues, touch, visual cues, and vocalizations.”

“Purring, a distinctive vocalization of cats, plays a significant role in vocal communication.”

“Initially, purring may signify a mother’s health, but it continues to facilitate communication among cats beyond the weaning phase.”

“In a social context, purring promotes security and comfort, expresses familiarity, and invites play, though its precise function remains unclear.”

For this study, researchers evaluated the behavior of 280 cats, all of whom were neutered or mixed breeds living in their owners’ homes.

DNA samples were collected and analyzed to compare the ar gene with those from other negrid species.

“Upon reaching out to participants, we quickly received responses and warm messages from 265 cat owners across Japan within just a day,” Okamoto remarked.

“This highlighted the strong public interest in feline research.”

“The findings suggest a genetic basis for both purring and vocal communication.”

“Cats with the short-type androgen receptor gene received higher ratings from their owners than those with the long-type gene.”

“Additionally, male cats with the short form displayed increased vocalizations towards humans, indicating a genetic link to vocal communication.”

“Conversely, female cats with the shorter-type gene demonstrated heightened aggression towards unfamiliar individuals.”

“These findings could indicate a decreased significance of vocal communication in cats raised by humans from kittenhood, particularly those that are typically purebred.”

“Prior studies indicated that purebred cats are more likely to carry long-form genes than their mixed-breed counterparts.”

“This study included numerous mixed-breed cats that were rescued and were previously strays.”

Through comparisons of cat genes with 11 other genes, researchers discovered that both leopard and fishing cats were genetically similar to domestic cats and possessed shorter types, while domestic cats did not exhibit longer types found in other species.

These results imply that the emergence of long types may be linked to genetic changes related to domestication and selective breeding.

“These results may help predict behavioral trends based on genetic data, enhance observation and care based on needs, and ultimately improve animal welfare,” the authors stated.

The team plans to broaden their research focus to include other negrid species.

“Through our research, we aim to enrich our understanding of cats and foster better relationships between felines and humans,” Okamoto concluded.

This study was published online on May 28th in PLOS 1.

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Y. Okamoto et al. 2025. The relationship between androgen receptor genes and cat behavioral traits (Ferris Katas). PLOS 1 20(5): E0324055; doi: 10.1371/journal.pone.0324055

This article is based on an original release by Kyoto University.

Source: www.sci.news

Scientists Discover the Genetic Region Responsible for Unsticking Blackberry Canes

Posted on May 22, 2025 by Igor Mitreski

Stingless blackberries (Lubus subgenus Lubus) canes are highly favored by growers due to concerns regarding food and worker safety, as well as the potential damage to fruit caused by the mechanical injuries associated with stings.

John’s et al. We identified a single locus that regulates unstimulated cane. Image credit: Gerald Antonio Romero.

Blackberries represent a specialized crop that is capturing a larger portion of the fresh berry market.

The rising demand coupled with increasing production costs has created a need for cultivars adaptable to various environmental and management practices.

Stings pose a challenge in blackberry production systems, presenting food safety issues and causing mechanical damage to the fruit, thereby reducing its shelf life.

The primary aim of a fresh market blackberry breeding program is to introduce thornless cultivars. These terms are often used interchangeably in existing literature.

Stinging differentiates plant-based differentiation from thorns and spines due to the formation of cortical and epidermal cells.

“Blackberry breeders lacked the genetic information required to ascertain whether certain plants were devoid of what is technically called nausea, commonly referred to as thorns,” stated Dr. Margaret Worthington, a researcher with the Arkansas Agricultural Experimental Bureau.

“All fresh market blackberry varieties are Tetraploid, meaning they possess four copies of all chromosomes as opposed to the two copies found in humans.”

“The greater the number of copies, the more challenging it becomes to conduct genetic analyses.”

“Previously, the locus and positioning of genes on chromosomes linked to spine traits were unknown.”

The team’s findings introduced the first diagnostic markers related to any traits developed and documented in blackberries.

“These markers are the first publicly available tools developed for both fresh market and processed blackberries,” expressed Dr. Ellen Thompson, Global Rubus Breeding and Development Director at Hortifrut Genetics.

“Markers expedite the breeding process, saving time and resources, and facilitate faster decision-making before seedlings are introduced into the field.”

The authors utilized genome-wide association studies to pinpoint the loci responsible for the spineless traits.

They gathered DNA samples from a total of 374 blackberry varieties.

These samples underwent genotyping, which is a highly accurate method that scans and identifies genetic codes impacting stinging characteristics.

If these variants, known as single nucleotide polymorphisms (SNPs), show significant correlations with certain traits, it implies that genes in that area might influence those traits.

These SNPs, or markers, highlight regions associated with the characteristic in question.

“Genetic markers are currently being implemented in blackberries and raspberries, but the technology is more mature for row crops like rice and soybeans,” noted Dr. Worthington.

“Genetic markers are widely utilized in row crops to select for disease resistance, growth or flowering periods, and other desirable traits.”

Another significant discovery from this study indicates that the absence of genetic mutations around chromosome RA04 leads to linkage disequilibrium blocks, or regions where genetic markers are more likely to be inherited together than by chance.

For the genes that are spineless within this block, these traits are often inherited from parent to offspring along with various other genes, including those linked to high acidity, lack of cold resistance, and less desirable traits like canes that require support to remain upright.

“The focus on selecting for spineless plants has inadvertently resulted in the loss of genetic variation surrounding the locus,” Dr. Worthington commented.

“Crossbreeding with thorny plants can help restore this variation.”

The team’s paper has been published in the journal G3: Genes, Genomes, Genetics.

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Carmen A. Johns et al. Genetic control of exhalation in tetraploid blackberries. G3: Genes, genomes, genetics Published online on March 20th, 2025. doi:10.1093/g3journal/jkaf065

Source: www.sci.news

Science Confirms: A Ginger Cat is a Genetic Anomaly

Posted on May 17, 2025 by Igor Mitreski

The ginger cat results from a unique genetic variation that, as far as scientists can tell, isn’t found in other species.

A recent survey published in Current Biology reveals that this variation is linked to the faulty expression of a gene called Arhgap36, which has never been associated with the development of mammalian ginger fur.

Interestingly, this gene resides on the X chromosome, which helps explain why most orange cats are male.

Similar to other male animals, including humans, cats possess one X and one Y chromosome. The gene for orange fur is on the X chromosome; therefore, if a male inherits an X chromosome with the orange gene, he will display an entirely orange coat.

Conversely, female cats have two X chromosomes. To display complete orange fur, they must inherit the orange gene from both of their X chromosomes. If they inherit it on only one, the other X may carry a non-orange gene.

This results in a mix of colors in their fur—like the patchy orange, black, and white patterns observed in Calico and Tortoiseshell cats.

Female cats with one copy of the orange gene often have partially orange fur, like this calico cat. – Credit: Jacobi’s Nils via Getty

The relationship between orange fur and sex applies to cats but not to other orange mammals, such as tigers, orangutans, or red-haired humans.

According to Dr. Christopher Kaelin, Senior Scientist and Lead Author at Stanford Medicine Genetics and Research, the orange mutations in those animals occur due to one of two genes, neither of which are sex-linked.

As a result, orange cats appear to be “genetic exceptions.”

The study confirms that ginger cats exhibit genetic anomalies, but the evidence is still inconclusive regarding whether this unique trait contributes to their reputation for being a mischievous bunch.

To determine if the ARHGAP36 mutation has any impact beyond fur color, researchers have examined various organs, including the kidneys, heart, brain, and adrenal glands, in both orange and non-orange cats, finding no significant differences.

Kaelin remarked, “I don’t think we can exclude the possibility of gene expression changes in untested tissues that might influence behavior.”

He also mentioned that the prevalent notion of orange cats causing chaos could largely be attributed to their male predominance, noting that there is limited scientific research on the personalities of orange cats.

Read more:

Source: www.sciencefocus.com

Scientists Discover Genetic Variations Responsible for Orange Coat Color in Cats

Posted on May 17, 2025 by Igor Mitreski

This mutation is associated with Rho GtPase Activated Protein 36 (ARHGAP36). Research conducted by a team from Stanford University School of Medicine suggests that this anomaly occurs in genes of various mammals.

The orange mutation linked to sex in domestic cats results in various reddish/yellow patches in their fur, clearly demonstrating random X inactivation in female turtles and calico cats. Unlike most coat color genes, other mammals lack evident homologs for the orange associated with gender. Research by Kaelin et al. shows that this mutation results from a 5 kb deletion leading to ectopic and melanocyte-specific expression of the ARHGAP36 gene. Image credit: Kaelin et al., doi: 10.1016/j.cub.2025.04.055.

Various mammals exhibit orange shades—like tigers, golden retrievers, orangutans, and red-headed humans—but this is particularly prevalent in domestic cats (Felis catus). The orange coloration is sex-linked and is observed more frequently in males.

“In many species with yellow or orange pigments, these mutations almost exclusively occur in one of two genes, neither of which is sex-linked,” states Christopher Kaelin, PhD, a researcher at Stanford University School of Medicine and the HudsonAlpha Institute for Biotechnology.

Scientists have pinpointed typical mutations that stimulate skin pigment cells to generate yellow or orange pigments instead of the default brown or black; however, they only had vague notions about locating corresponding mutations in cats.

They were aware that the mutation, termed sex-linked orange, was located on the X chromosome due to the predominance of male orange cats.

Male cats with this sex-linked orange will exhibit a complete orange coat, while females must inherit the mutation from both X chromosomes to appear fully orange.

A female cat possessing one copy of the sex-linked orange will showcase a partially orange coat with a pattern known as Tortoiseshell, or with patches of orange, black, and white known as Calico.

This variability arises from a phenomenon in females called random X inactivation, where one X chromosome becomes inactive in each cell.

Consequently, a mosaic pattern of pigment cells develops, some expressing the sex-linked-orange and others not.

“I observed this genetic anomaly over 100 years ago,” Dr. Kaelin recalled.

“It was the genetic puzzles that sparked my interest in Sex Link Orange.”

Building on prior research that dissected segments of the X chromosome housing mutations, Dr. Kaelin and his team methodically concentrated on the sex-linked orange mutation.

“Our ability to do this was facilitated by the development of genomic resources for cats made available in the last five to ten years,” Dr. Kaelin explained.

“This includes a fully sequenced genome along with various cat breeds.”

The researchers also obtained DNA samples from cats at neutering and spaying clinics.

Initially, they searched for a variant of the X chromosome common among orange cats and identified 51 candidates.

They excluded 48 of the candidates as they were also present in several non-orange cats.

Among the remaining three variants, one was speculated to play a significant role in gene regulation: ARHGAP36.

“When we identified it, ARHGAP36 had no association with pigmentation,” Dr. Kaelin stated.

This gene, well-conserved across mammalian species, has drawn attention from cancer and developmental biology researchers.

ARHGAP36 is typically expressed in neuroendocrine tissues, where its overexpression can lead to tumors; however, its association with pigment cells remained unknown.

Notably, it was discovered in a pumpkin-colored cat by Dr. Kaelin and his colleagues.

“ARHGAP36 is not present in mouse, human, or non-orange cat pigment cells,” Dr. Kaelin noted.

“The orange cat mutation appears to induce ARHGAP36 expression within pigment cells, where it is normally not present.”

This irregular expression in pigment cells disrupts intermediate steps in known molecular pathways governing coat color.

In other species, typical orange mutations interrupt earlier stages in that pathway; however, in cats, sex-linked oranges confuse the latter stages.

“It’s certainly an unusual mechanism for gene alteration in specific cell types,” said Dr. Kaelin.

The team’s findings are detailed in a study published this week in the journal Current Biology.

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Christopher B. Kaelin et al. Molecular and genetic properties of sex-linked orange coat colors in domestic cats. Current Biology Published online on May 15th, 2025. doi:10.1016/j.cub.2025.04.055

Source: www.sci.news

Genetic Research Uncovers the Origins of Bats

Posted on May 7, 2025 by Igor Mitreski

In the early 2000s, bats infected with coronavirus transmitted the virus to raccoon dogs and other wild mammals in southwestern China. Many of these animals were sold in markets where the coronavirus resurfaced. Consequently, the SARS pandemic spread to 33 countries, resulting in 774 fatalities. Months later, researchers identified a mammalian coronavirus known as Palmcoten, found in markets central to the outbreak.

In a study published Wednesday, a team of researchers drew comparisons between the evolutionary paths of SARS and COVID-19, 17 years apart. They examined the genomes of the two coronaviruses responsible for the pandemics, alongside 248 related coronaviruses in bats and other mammals.

Jonathan Pechal, an evolutionary virologist at the University of Edinburgh and author of the study, noted that the histories of the two coronaviruses mirrored each other. “In my opinion, they are very similar,” he stated.

In both instances, Dr. Pekal and his team assert that coronavirus transmission originated from bats in southwestern China to wild mammals. Soon after, wildlife traders transported infected animals hundreds of miles to urban markets, leading to widespread human outbreaks.

“When wildlife is sold in urban centers, pandemics often follow,” stated Michael Warby, an evolutionary biologist at the University of Arizona and co-author of the research.

This research appears at a politically charged moment. Last month, the White House launched a web page titled “Laborek: The True Origins of COVID-19,” asserting the pandemic stemmed from a lab accident in Wuhan, rather than market interactions.

In a budget proposal issued on Friday, the White House indicated that it was “confirming” the lab leak theory, which justified an $18 billion cut to the National Institutes of Health.

The Chinese government responded with a flat denial of claims that COVID was caused by a lab leak in Wuhan, suggesting instead the virus may have originated from a laboratory in the U.S.

“A thorough and detailed investigation into the origin of the virus should be conducted in the United States,” the statement read.

Sergei Pond, a virologist at Temple University, expressed skepticism regarding the resolution of COVID’s origins. He voiced concerns that political rhetoric from both governments could hinder scientific inquiries into the virus’s origins.

“If it weren’t tragic, you’d have to laugh at how things have unfolded,” Dr. Pond commented.

In the initial weeks of the early 2020 pandemic, the virus responsible, SARS-CoV-2, emerged alongside notions of biological weapons created by the Chinese military. A cohort of scientists analyzing available data at that time dismissed this claim, indicating that while they could not dismiss accidental lab leaks, they leaned towards the natural origins of COVID.

Over the ensuing months, Dr. Warby, who was not part of that group, grew dissatisfied with the lack of compelling evidence favoring one theory over another. He co-signed an open letter with 17 other scientists advocating for further investigation to ascertain the most likely explanation.

“We felt there was much yet to be learned, so let’s not dismiss the lab leak theory,” Dr. Warby asserted. “Let’s investigate.”

As Dr. Warby and other researchers scrutinized COVID’s origins, the American intelligence agencies conducted their assessments. Their conclusions were varied. The FBI and CIA support the lab escape theory from the Wuhan Institute, albeit with little certainty. The Department of Energy expresses low confidence in the possibility of a virus escape from another lab in Wuhan, while other institutions favor a natural origin.

Scientists have struggled to evaluate the evidence behind these conclusions as the relevant institutions have not published supporting data or analyses. However, Dr. Warby and his colleagues have released several papers in scientific journals. Along this journey, Dr. Warby became convinced that the COVID pandemic originated at the Huanan Seafood Market in Wuhan.

“Scientifically, that’s evident,” Dr. Warby remarked, referencing both HIV and the Spanish flu, two diseases with origins that have been thoroughly studied.

In their recent study, Dr. Warby, Dr. Pekal, and their colleagues examined 250 genomes of coronaviruses, leveraging genetic similarities and differences to establish relationships. They successfully reconstructed the evolutionary timeline of the coronaviruses responsible for both SARS and COVID-19, known as SARS-CoV and SARS-CoV-2.

The ancestors of both coronaviruses have been circulating in bats across China and its neighboring regions for hundreds of thousands of years, specifically inhabiting southwestern China and northern Laos for the last 50 years.

When coronaviruses infect bats, they sometimes cohabitate with another coronavirus. This can lead to the accidental creation of a hybrid virus carrying genetic material from both original coronaviruses, a process referred to as recombination.

“These are not ancient events,” noted David Rasmussen, a virologist at North Carolina State University involved in the new research. “These occurrences happen frequently; these viruses are truly mosaic in nature.”

In 2001, shortly before the SARS pandemic emerged, researchers found that SARS-CoV had undergone significant genetic mixing among bats. This led to the virus’s potential evolution into a human pathogen. However, given that Guangzhou is hundreds of miles from the ancestral area of SARS-CoV, it’s improbable that the virus gradually reached the city through bats.

Researchers generally concur that ancestors of SARS-CoV infected wild mammals, which were subsequently sold in markets around Guangzhou. Shortly after the onset of the SARS pandemic, the presence of SARS-CoV was confirmed in palm civets and other wild mammals traded in the market.

A similar trend was observed with SARS-CoV-2, the virus responsible for COVID-19. The final recombination event in bats occurred between 2012 and 2014, just five to seven years prior to the COVID outbreak, hundreds of miles away from northeastern Wuhan.

Moreover, this signifies a considerable distance from the area where the virus’s ancestors circulated, paralleling the journey that SARS-CoV undertook via the wildlife trade.

Proponents of the lab leak theory emphasize the significant distance between Wuhan and the habitats of the closest relatives of SARS-CoV-2. They argue that if bats traveled to the area around Wuhan without infecting local mammals, scientists must have been collecting coronaviruses from bats in southwestern China and experimenting on them in the lab.

American scientists have critiqued the Wuhan Institute of Virology for lax safety measures in their coronavirus experiments. Nevertheless, no evidence has confirmed that the ancestors of SARS-CoV-2 were present at the institute prior to the pandemic. Recent research by Dr. Warby and his colleagues illustrates that bat coronaviruses can traverse considerable distances via wildlife trade without any scientific intervention.

The researchers argue that these findings align with a study published in 2022, identifying the Huanan Wet Market in Wuhan as the site of the initial COVID outbreak. Wild mammals were sold at this venue, and early cases of COVID were documented there. Moreover, Chinese researchers collected various strains of SARS-CoV-2, exhibiting different mutations at this location. Dr. Warby and his team posited that the virus likely spilled over from wild mammals at the market on two separate occasions.

Dr. Pond stated that while the new study supports the wildlife spillover theory, he does not believe the issue has been definitively settled. He highlighted two statisticians’ critiques from last year, regarding the modeling behind the 2022 study. Dr. Warby and his colleagues have provided a rebuttal to those criticisms. “That debate is still ongoing,” Dr. Pond remarked.

Mark Eloit, former director of the Pasteur Institute in Paris, emphasized the importance of the new research in clarifying the origins of SARS-CoV-2.

However, he also noted that the coronavirus exhibits significant differences from closely related bat viruses. Following its divergence from those viruses, it would have undergone mutations or recombination to effectively spread among humans.

“I contend that the potential for recombination events—either incidental or deliberate—remains as plausible as the hypothesis of zoonotic transfer via intermediate hosts at the market,” Dr. Eloit argued.

Dr. Eloit and other scientists concurred that discovering intermediate hosts of SARS-CoV-2 among wild mammals would significantly bolster the argument for natural spillover. However, Chinese officials examined various animals at the onset of the pandemic but found no traces of the virus.

Before scientists could conduct studies, wildlife vendors at the Huanan Market removed animals from the stalls, and when China ceased wildlife trade, farmers culled their animals.

“There are large gaps in our knowledge, and we can’t overlook that,” Dr. Pond remarked.

Stephen Goldstein, a geneticist at the University of Utah, remarked that while he was not involved in the new study, the findings serve as a cautionary reminder of future pandemic risks. Wild mammals traded in markets within regions where SARS and COVID-19 emerged can wreak havoc in urban centers hundreds of miles away. “These viral fragments are present in numerous places,” Dr. Goldstein concluded.

Source: www.nytimes.com

Genetic Engineers Bring Back Extinct Wolves with White Fur and Improved Well-Being

Posted on April 8, 2025 by Igor Mitreski

A company aiming to revive lost species has revealed three genetically designed wolves in the US that resemble extinct dire wolves. These wolves are seen sprinting, sleeping, and howling in their private, safe spaces.

The wolf puppies, aged 3 to 6 months, have long white hair, muscular chins, and weigh around 80 pounds. According to Giant Biology, this revelation was made on Monday.

Dire wolves, which went extinct over 10,000 years ago, were much larger than their closest living relatives today.

While independent scientists caution that this effort does not mean the dire wolves will return to North American grasslands soon, the lead scientist on the project, Beth Shapiro from Colossal, explained the process of genetically modifying blood cells from live grey wolves to create these genetically engineered puppies.

Colossal previously worked on similar projects, including creating animals resembling extinct woolly mammoths and dodos.

Although the puppies physically resemble young dire wolves, experts like Matt James, Colossal’s animal care expert, note they may lack certain behaviors vital for survival in the wilderness.

Colossal also reported cloning four red wolves using blood drawn from wild wolves to enhance genetic diversity among the endangered red wolf population.

While the technology may have broader applications for species conservation, challenges like sedating wild wolves for blood collection still remain.

Colossal’s CEO, Ben Lamm, met with officials from the US Department of Home Affairs in March to discuss the project. Despite skepticism from some scientists, interior secretary Doug Burgham praised the project as a remarkable advancement in science.

Vincent Lynch, a biologist at the University of Buffalo, emphasized that these reconstructed dire wolves cannot fully replicate the ecological functions they once performed.

Source: www.nbcnews.com

Scientists resurrect woolly mammoths with genetic technology and call them “mice”

Posted on March 8, 2025 by Igor Mitreski

The first researchers in science created mice that exhibit properties similar to extinct woolly mammoths.

Colossal Biosciences, an American Biotechnology Company, utilized CRISPR genome editing technology to develop the “Colossal Woolly Mouse.”

These mice are not miniature mammoths but have DNA designed to express mammoth-like properties, making them well-suited for cold environments.

An unpublished study published on Biorxiv explains how researchers modified seven mouse genes to give them a woolly coat.

This marks the first instance of a “living model” of animals with mammoth-like attributes.

Two “woolly mice” created by scientists

“Observing these mice is akin to peering into the past through a specialized lens,” said Dr. Louise Johnson, an evolutionary biologist at the University of Reading not involved in the study. “This technology provides an exciting avenue to test our theories about extinct organisms.”

She added, “Researchers successfully adjusted the mouse genome towards the mammoth genome for the first time.”

Through extensive computer analysis, researchers studied mammoth and African elephant genomes from 1.2 million years ago, modifying mouse genes related to hair growth and cold tolerance to create the final edited seven-gene combination. However, these mice do not possess an exact replica of mammoth genes, leading researchers to doubt the genes responsible for mammoth properties.

The Significance of this Discovery

According to Colossal Biosciences, this development is a groundbreaking step in addressing extinction. The company aims to reintroduce other extinct species with the goal of rebuilding ecosystems to maintain Earth’s balance. Founder Ben Lam envisions reviving species like dodos, giant ice age bears, and extinct Tasmanian marsupials known as thylacines.

Not all scientists are convinced of the immediate impact of this discovery.

While genetic manipulation has been used to create various models, including humans and extinct species, some remain skeptical. Professor Dusko Ilic, a stem cell science professor at King’s College London, acknowledges the milestone but warns of potential risks and ethical implications of such experiments.

While comparing mammoth and elephant genomes offers insights into adaptation and genetic traits, transforming mice into mammoth-like creatures may not directly translate to creating woolly elephants adapted for Arctic environments.

Many scientists doubt the feasibility of replicating mammoths through genetic manipulation alone without a complete understanding of their genetic makeup.

Read more:

Source: www.sciencefocus.com

Genetic Factors Could Contribute to Your Dog’s Weight Struggle, Just Like in Humans

Posted on March 8, 2025 by Igor Mitreski

Have you ever wondered why some dogs look naturally rounded, no matter how much they run around? After all, the same genes that contribute to human obesity are also found in our dogs.

in New genome researchscientists have identified several genes associated with obesity in dogs. This is a gene that we humans share. This means that our favorite furry friends (sorry, cats) will actually help researchers unlock new insights into weight gain, health and complex diseases.

Environmental factors such as Inexpensive availability of ultra-processed foods Scientists, commonly chosen for increased rates of obesity, emphasize that it is a complex condition with a large number of biological root causes. The main factor is hereditary Research from 2007 People estimate that there is 40-70% of people who develop obesity due to genes they inherit from their parents.

As Dr. Eleanor Rafansaid he will lead the academics with new research. BBC Science Focus, “If you're unlucky enough to get the genes that are prone to obesity, it manifests as a bigger appetite and makes it difficult to resist those drives. Slim people aren't morally good. You don't need to show that much willpower to maintain a healthy weight.”

To see if obesity in dogs is also hereditary, researcher Natalie Wallis and her team looked at the genes of a 241 pet Labrador retriever.

Oscar and Isla, and the Labrador used in this study. Photo credit: Natalie Wallis

Using a heterologous approach, they identified multiple obesity-inducing genes shared by dogs and humans. Among these, the gene dennd1b plays an important role in the way our cells process energy – has emerged as a particularly strong genetic association between human and dog obesity.

“By looking at just a few hundred Labrador retrievers, we discovered new biology about the associations of the whole species. We hope that more people will consider using dog genetic models for more scientific discoveries in the future, especially for complex diseases,” Wallis said. BBC Science Focus.

Not only does it provide scientists with new models to understand human diseases, but this study also helps to care for dogs. Pet obesity is on the rise, and at Royal Veterinary College in London Recently, we have reported 1 in 14 dogs It is recorded as overweight every year in the UK.

In the US, 2022 Pet Obesity Association (APOP) Survey It is found that 59% of dogs are overweight, indicating a wide range of issues in pet health. However, up until now, the genetic basis of dog obesity has not been extensively studied.

Dr. Eleanor Lafan takes chocolate Labrador retrievers. Photo credit: Dr. Eleanor Rafan

Understanding pet genetics may be a game changer for their care. “Our results underscore the importance of encouraging exercise and limiting food intake for pet dogs,” says Dr. Rafan.

“Many people still blame the owners of fat dogs, saying they are lazy or extravagant, and the same stereotypes are reflected on obese people. Our data shows that controlling food intake in high-risk dogs is much more difficult. It should actually change the way dogs deal with obesity. They should target high-risk dog owners and support effective management (rather than criticizing them).”

read more:

Source: www.sciencefocus.com

Researchers organize the genetic information of Chinese and Malay pangolins

Posted on February 14, 2025 by Igor Mitreski

Researchers and colleagues from the Northeast Forestry University and the Northeast Forestry Academy are assembled chromosomal scale genomes of two highly endangered pangolin species. Chinese pangolin (Manis Pentadactyla) and Malayan Pangolin (Manis Javanica).

Distribution area and sampling site for pangolins in China and Malay. Image credit: LAN et al. , doi: 10.1093/gigascience/giaf003.

Pangolins are living fossils with many unique biological properties, including the body-covering keratin scale, a special diet, a long, muscular tongue, a sensitive olfactory system, and the ability to dig holes.

Locals in that distribution area have traditionally used their scales and meat for medicine and food.

An excess excerpt of pangolin, driven by rising demand for luxurious foods and traditional Chinese herbal medicines, has pushed the animal to the edge of extinction.

Currently, pangolins are the most trafficked wildlife in the world, with over 900,000 individuals poaching 67 countries from six continents involved in illegal poaching and trade.

Poaching is more rampant for Asian pangolins compared to African pangolins, particularly Malayan pangolins and Chinese pangolins.

These two species are listed as Critical at risk On the IUCN Red List for the first time since 2014.

“World Pangolin Day is celebrated on February 15th, so a new study presenting high-quality genomic data for these pangolin species is the genetic vulnerability and risk of extinction in Malayan and China's pangolin species. It's fitting that he is in the spotlight on the subject,” Yang Hua and colleagues.

The starting point for their analysis was to generate genome sequences of Chinese and Malay pangolins at significantly higher resolutions than those currently available.

Having such high quality data in the form of near-gap chromosomal scale sequences will capture important information, which is a key indicator of genetic health, and important information, which is the risk of extinction in any population. It's very valuable for it.

Therefore, the analysis included estimates of genetic diversity. This shows how many genetic variations exist between individuals in the population.

Scientists then used high-quality data as reference points and used previously published genomic data from 37 Chinese pangolins and 72 Malayan pangolin individuals to conservation inheritance of five pangolin populations. The condition has been reassessed.

They found the overall genetic diversity was surprisingly high. This is a positive indication of the genetic health of the population.

However, their detailed analysis showed that some of these populations were at higher risk of extinction than others.

Specifically, based on genetic data from one pangolin population, the authors have shown that this population has significantly faster and more sharper population declines within the last 10,000 years compared to the other populations in the study. I confirmed that it was over.

Furthermore, other genetic parameters in their studies indicate that this population, particularly in particular, is at a very high risk of extinction.

In addition to this, analysis of pangolin specimens from Taiwan revealed equally painful data.

Severe survival pressures require future work to solidify certain pangolin populations to some extent at the risk of extinction.

The data also show that further research into regional differences in these populations should be more careful as it has the capacity to help guide the already ongoing genetic rescue efforts.

“In addition to supporting the management of illegal poaching and human trafficking, the Chinese government has built breeding centres for the conservation of pangolins in both China and Malay and developed artificial breeding and breeding programs.” Academy and Northeast Forestry University.

“With the support of these data, we can better assess the genetic rescue strategies of wild populations by reconstructing and releasing these prisoner individuals in the future.”

a paper The findings were published in the journal gigascience.

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TIANMING LAN et al. 2025. Enhanced inbreeding estimation and global conservation insights through chromosomal-level gatherings of pangolins in China and Malay. gigascience 14: GIAF003; doi: 10.1093/gigascience/giaf003

Source: www.sci.news

New Genetic Findings Show Women’s Empowerment in Ancient Britain Before Roman Rule

Posted on January 15, 2025 by Igor Mitreski

Late Iron Age Durotrigan burial at Winterbourne Kingston, Dorset, England

bournemouth university

Genetic analysis of people buried in a 2,000-year-old cemetery in southern England supports the idea that Britain’s Celtic communities were dominated by women, finding that while men immigrated from other communities, women indicates that they stayed in their ancestral home. It lasted for centuries.

The study supports growing archaeological evidence that women held high positions in Celtic societies across Europe, including Britain, and that Mediterranean audiences often found it difficult to describe Celtic women as having power. This gives credence to the Roman accounts, which were often thought to be exaggerated.

Since 2009, Durotrygean skeletons have been unearthed during excavations of an Iron Age burial site in Winterbourne-Kingston, Dorset, England. The Durothrigeans occupied the coast of south-central England from about 100 BC to 100 AD, and probably spoke a Celtic language.

Human bones from Iron Age Britain are rare because they were destroyed by common funerary practices such as cremation and burial of bodies in bogs. However, the Durotrige buried their dead in formal cemeteries in the chalk landscape, which helped preserve them. Archaeologists have found that Durotrigan women were often buried with valuables, suggesting a high status and perhaps a female-centered society.

Lara Cassidy Doctors from Trinity College, Dublin, have now analyzed the genomes of 55 Winterbourne-Kingston Durotrigans to determine how they are related to each other and to other Iron Age peoples in Britain and Europe. I found out how they are related.

Cassidy says there were two big “aha” moments. Both were associated with mitochondrial DNA. Mitochondrial DNA is a small loop of DNA that is inherited only through the maternal line because it is passed through the egg cell and is not integrated with other DNA.

Once each individual’s mitochondrial DNA results were obtained, the researchers noticed that the same genetic sequences appeared over and over again. More than two-thirds of the individuals were found to be descended from a single maternal line, descended from a common female ancestor several centuries ago.

“At that moment, my jaw dropped,” Cassidy says. “This was a clear sign of matrilocality, a husband moving to live with his wife’s family, a pattern never before seen in prehistoric Europe.” Father locality moving into the community is the norm.

To find out whether the maternal localization pattern was a phenomenon peculiar to the Durothrigues, or whether it might have been more widespread across Britain, Cassidy uses an earlier large-scale study of Iron Age Britain and Europe. I started looking into genetic research data. Her jaw dropped again. She found that in cemeteries across Britain, most people were maternal descendants of a small number of female ancestors.

Cassidy said there is growing evidence that Iron Age women were relatively powerful. “Nativeness typically co-occurs with cultural practices that benefit women and integrate them into family support networks,” she explains.

In modern societies, matrilocality is associated with increased female involvement in food production, increased paternity uncertainty, and longer periods of male absence. In such societies, it is men who migrate to new communities as relative strangers and become dependent on their partners’ families for their livelihood.

“Although men typically still occupy formal positions of authority, women can wield significant influence through their strong matrilineal kinship networks and central role in local economies,” says Cassidy.

Cassidy’s team also compared the British DNA dataset with data from other European sites, revealing repeated waves of migration from the continent, consistent with archaeological evidence. This is because southern Britain was a hotspot of cultural and genetic exchange during the Bronze Age between 2500 BC and 1200 BC and during the Late Iron Age influx of the previously unknown Durothrigid period. showed that it was.

Previous research had suggested that Celtic languages probably arrived in Britain between 1000 BC and 875 BC, but this new discovery expands that possibility. “Celtic languages may have been introduced multiple times,” Cassidy said.

“This is very exciting new research and will revolutionize the way we understand prehistoric societies,” he says. Rachel Pope from the University of Liverpool, UK, previously found evidence of female-dominated kinship relationships in Iron Age Europe. “What we’re learning is that the nature of pre-Roman European society was actually very different.”

topic:

Source: www.newscientist.com

Ancient DNA analysis uncovers Ukraine’s intricate genetic history

Posted on January 15, 2025 by Igor Mitreski

To study the history of migration and movement in the Ukrainian region, with a particular focus on Iron Age and Medieval migrant populations, the scientists generated genomic data on 91 individuals from around 7000 BC to around 1800 AD. Their results show that ancient peoples had diverse ancestry as a result of frequent migration, assimilation, and contact.

A map showing the geographical location of the ancient figures included in the study and a chronology showing the dates of the figures in the archaeological group. Image credit: Saag others., doi: 10.1126/sciadv.adr0695.

Over the centuries, migration has taken place in the steppe and forest-steppe regions of Ukraine in several directions.

These migrations were driven by a variety of processes, including cultural contacts and conflicts between tribes, trade, demographic pressures, and the expansion of nomadic areas of influence.

The main migration flows were from the Carpathian-Donabian region, the Southern Ural-Volga region, Central Asia and the North Caucasus, and intensive population movements also occurred within the territory of Ukraine.

At the end of the Bronze Age and the beginning of the Early Iron Age, the most notable archaeological activity in the northern Pontic Steppe was Cimmerian and military operations in Asia Minor.

The Cimmerians were followed by Scythians and SarmatiansEarly Iron Age political and military tribal confederations with various combinations of local and East Asian ancestry, as shown by previous ancient DNA (aDNA) studies. At this time, the northern Black Sea coast was covered with a network of urbanized Greek colonies.

In the forest-steppe region, the modern sedentary population is influenced by the former Tsinets culture (including the Lusatian and Vysotska cultures) and the central European influences of the Hallstatt and La Tène periods (Illyrians, Thracians, Celts). It was related.

According to written and archaeological sources, the peoples considered to be the predecessors of the Slavs were Zarbinetska culture — Already existed in the Ukrainian region from the 3rd century BC onwards, during the La Tène and Roman times.

The beginning of the era of migration in the Ukrainian region is associated with the arrival of Germanic tribes such as the Goths and the formation of a multiethnic state. Culture of Cherniahivwhich also included other ethnic groups that already lived in the area.

Between the 2nd and 4th centuries AD, the nomadic Huns of Central Asia emerged on the northern Pontic Steppe, and their westward migration brought about significant economic, cultural, and social changes in Europe.

This period is associated with the emergence of a new ethnolinguistic group, the Slavs, who spread across much of Eastern Europe between the 5th and 7th centuries AD.

From the 8th to the 10th century AD, large parts of Ukraine were under its control. Khazar Khaganate.

In Ukrainian archeology, this is expressed as follows: saltive cultureit is believed that it was shared among multiple ethnic groups (Alans, Bulgars, Turks, Slavs, Magyars, etc.).

At the same time, there was a process of unification of the Slavic tribes, and in the 9th century AD, Kiev Rus was formed.

The development of Slavic states took place against the background of constant nomadic invasions from the east.

Between the 11th and 13th centuries AD, waves of Pechenegs, Turks, and Cumans invaded the northern Pontic region from Central Asia. The most substantial invasion in terms of military power and results was that of the Mongols of the Golden Horde. 13th century AD.

By the 15th century AD, remnants of the Golden Horde, such as the Nogai, still lived in the steppes of northern Pontus.

Since the 16th century. In the Western era, Slavs were the majority ethnolinguistic group in the Ukrainian region.

“We decided to investigate the genetic ancestry of people who lived in the northern Pontic region during these times and were associated with different cultural groups,” said lead author of the study and co-author of the University of Tartu and University of Tartu. said Dr. Letty Saag, a researcher at College London. And my colleagues.

For the study, the authors extracted and sequenced DNA from tooth roots and bone fragments from 91 people at 33 archaeological sites in present-day Ukraine.

The sample included one Neolithic individual (7000–6000 BC), nine individuals from the Bronze Age and the beginning of the Final Bronze Age to the beginning of the Iron Age (3000–700 BC), and six individuals from the beginning of the Early Iron Age. contained the name (900-700 BC), 29 people of the Early Iron Age Scythian period (700-300 BC), 6 people of the Early Iron Age (700-300 BC), the end of the Iron Age (400-1 BC). , 12 from the Late Iron Age (1-400 AD), 9 from the Early Middle Ages (800-900 AD), and from the Middle Ages to B.C. 19 Early modern period (900 to 1800 AD).

Their DNA analysis shows that ancient peoples had diverse ancestry as a result of frequent migration, assimilation, and contact.

“From the Mesolithic to the time of the Vysotska and Vylozerska cultures at the end of the Bronze Age, the proportion of large-scale ancestry was similar to modern populations in other parts of Europe, first as hunter-gatherers and then as early farmers. and finally a mixture of the two: early farmers and steppe pastoralists,” the researchers said.

“From the Cimmerian period to the Middle Ages, the appearance of eastern nomads in the Pontic region became a common occurrence.”

“Their genetic make-up ranges from Yamuna-like superimposition on indigenous peoples, such as the Scythians and Cumans, to highly East Asian ancestry and minimal indigenous ancestry, such as the Alan Bulgars and Nogais. They ranged from mixed race to mixed race.”

“At that time, nomadic groups were recorded in the steppe regions, but the people of other parts of the Ukrainian region had mainly European ancestry, with connections to local ancestors and Thracians, Greeks, Goths, etc. there were.”

“The palincest of migration and population mixing in the Ukrainian region contributes to high genetic heterogeneity in geographically, culturally and socially homogeneous populations, and between individuals from the same place, at the same time, and with the same characteristics. “Different genetic profiles will exist,” they added.

“Our study focuses specifically on historically attested migrant populations rather than local populations, and the sampling is geographically biased primarily towards eastern Ukraine and temporally towards the Iron Age and Middle Ages. It is important to note that

“Nevertheless, a large local genetic profile similar to modern Ukrainians persists in the region through time and within this sample set.”

“This ancestral structure can be traced back at least to the Zurbunas, and is also found in the Vysotskas and Lusatians, the Scythians of the west, the modern agricultural peoples of the east, the Chernyahivs, and even the medieval and early modern Slavs.”

“We infer that there has been a major indigenous component in the ancestry of Ukrainians since at least the Bronze Age, although there are clear traces of high migration activity, including immigration from East Asia and extensive admixture. ”

of findings Featured in this week's diary scientific progress.

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Letty Thurg others. 2025. Crossroads of the Northern Pontus: Migration of Ukraine from the Bronze Age to the Early Modern Period. scientific progress 11(2);doi: 10.1126/sciadv.adr0695

Source: www.sci.news

New Study Reveals Further Insights Into Tea’s Genetic Composition

Posted on December 27, 2024 by Igor Mitreski

Free amino acids (FAA) specifically determine the quality of tea. Theaninewhich gives the tea its infusion flavor. However, its concentration varies widely depending on the type of tea, influencing both the flavor and nutritional profile of the tea. In a new study led by the Tea Research Institute of the Chinese Academy of Agricultural Sciences and Huazhong Agricultural University, 339 tea lines were collected to study FAA levels to elucidate tea variation and accumulation mechanisms. The results provide insights and benefits for the conservation, evaluation, and utilization of tea germplasm, with the ultimate goal of tea plant genetic improvement and breeding, as well as further deciphering the complex complex traits of tea plants. We provide valuable information and approaches to help you.

By analyzing the variation of FAA of 339 tea accessions over 2 years, the determined components of FAA, including arginine, glutamine, glutamic acid, alanine, and theanine, with the highest diversity index were found in different genetic resources and within species. We found that there were differences between strains. On the other hand, the amount is Camellia sinensis All were significantly higher than their wild relatives. In this study, a significant opposite trend between chlorophyll and FAA profiles was identified. Image credit: Sci.News.

“Tea tree (Camellia sinensis) and its wild relatives, evergreens and woody perennials, belong to this genus. camellia “It is a member of the Camellia family with a long history of cultivation,” said co-senior author Dr. Liang Chen of the Tea Research Institute and colleagues.

“Originally in southwestern China, it is widely consumed around the world and is becoming the most important non-alcoholic beverage.”

“For commercial and quality value, the secondary metabolites of the tea plant are important criteria associated with pleasant flavor, nutritional value, and numerous health benefits, including polyphenols, catechins, caffeine, theanine, and terpenes. .”

“Therefore, the evaluation and utilization of tea lines… findings appear in this diary horticultural research.

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ron fan others. 2024. Comprehensive analysis of free amino acid variation and accumulation in tea lines. horticultural research 11 (1):uhad263;doi: 10.1093/hr/uhad263

Source: www.sci.news

Genetic Variation Decides Tooth Shape, Scientists Discover

Posted on December 18, 2024 by Igor Mitreski

According to a study led by researchers at University College London, one of these genetic variations was inherited from Neanderthals.

El Sidrón Neanderthals taste wild mushrooms, pine nuts, and forest moss. Image credit: Abel Grau, CSIC Communication.

“Teeth can tell us a lot about human evolution. Well-preserved ancient teeth are of particular interest to archaeologists, as we learned from the transition to cooked foods and when human teeth began to shrink in size.” We will highlight milestones such as when the , a researcher at University College London.

“However, little is known about the genetic basis of differences in tooth size and shape in modern humans, partly because teeth are difficult to measure.”

“We have now identified a large number of genes that influence tooth development, some of which are responsible for differences between ethnic groups.”

In the study, Dr. Adhikari and his colleagues used data from 882 Colombian volunteers of European, Native American, and African descent.

The dataset included crown measurements (dimensions of the part of the tooth visible above the gums) taken from 3D scans of dental plaster casts.

The researchers compared these measurements to participants' genetic information in genome-wide association studies, using an analytical approach called multi-omics that integrates numerous data sources.

They identified 18 genomic regions that influence the size and shape of different tooth groups, 17 of which had not previously been associated with tooth dimensions.

One of the new connections concerned genes thought to have been inherited from Neanderthals through interbreeding with ancient humans. homo sapiens.

This genetic variation, which contributes to the biological pathway of tooth development, is found only in people of European descent, and carriers of the mutation have thinner incisors (the eight teeth located at the front of the mouth). The thickness of the tooth was measured from back to front).

Generally speaking, people of European descent had smaller teeth.

Scientists also found a link between tooth dimensions and a gene already known to influence the shape of incisors in East Asians, but the new study shows that this gene, called EDAR, It turns out that it also determines the width of all teeth.

“Some of the genes that contribute to normal variations in tooth dimensions in healthy people may also contribute to pathogenic variations, such as tooth growth failure and other dental health conditions,” said a researcher at Fudan University. said researcher Dr. Chin Lee.

“We hope that our findings will have medical benefits, such as people with certain dental problems being able to undergo genetic testing to help diagnose them, and dental abnormalities one day being treated with gene therapy.” I hope.”

“Our findings did not reveal whether the genes that specify tooth shape were selected during evolution for special benefits for dental health. “Differences that occur as a side effect may have been selected for the shape of the area as well as its influence on other areas,” said Professor Andres Luis Linares, a researcher at University College London, Fudan University, and Aix-Marseille University. said.

a paper The findings were published in a magazine on December 12th. current biology.

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Chin Lee others. PITX2 Expression and Neanderthal gene introgression HS3ST3A1 Contributes to changes in tooth dimensions in modern humans. current biologypublished online on December 12, 2024. doi: 10.1016/j.cub.2024.11.027

Source: www.sci.news

Harness Genetic Technology Now to Prevent Upcoming Food Crisis

Posted on November 14, 2024 by Igor Mitreski

There are two major problems with the global food system. First, hundreds of millions of people cannot afford enough nutritious food to stay healthy. Second, it’s incredibly destructive. We’re still destroying rainforests to make way for ranches, both conventional and organic farms produce all kinds of pollutants, and our food system produces more than a third of greenhouse gases. I’m letting you do it.

Things could get even worse if global temperatures rise above 1.5 °C (see 2024 expected to be first year to surpass 1.5 °C warming threshold). But there’s a lot we can do, from eating less meat to reducing food waste (see “Is the climate food crisis even worse than we imagined?”). The amazing advances in genetic technology in recent years have greatly expanded the scope for improving the plants and animals that feed us. We can make them more nutritious and healthier, better able to cope with changing conditions and less susceptible to the diseases that will become more prevalent as the world warms. It should also be possible to produce plants that require less fertilizer and capture more of the sun’s energy.

It is surprising that most countries do not invest significantly in crop improvement.

The benefits from all this will be immense. We get more food from less land, lower prices, reduce greenhouse gas emissions and make it less likely that viruses such as H5N1 bird flu will cause new pandemics.

It is therefore surprising that most countries do not invest heavily in crop improvement. While there is some private investment, these companies are unlikely to make their technology freely available and adoption has been slow.

Opposition to genetically modified (GM) crops also binds us to the idea that more “natural” agricultural methods are better, as approval is difficult and expensive.

This situation is starting to change, with many countries making it easier to bring gene-edited crops and animals to market, but we need more action, and faster action.

The idea that organic food is good for the planet and genetically modified food is bad for the planet is a false narrative that hides a much more unpleasant reality. This means that continuing as is will only lead to more destruction and more hunger.

topic:

Source: www.newscientist.com

Genetic study uncovers ancient Easter Islander’s resilience and connections to pre-European contact in the Americas

Posted on September 12, 2024 by Igor Mitreski

Easter Island, also known as Rapa Nui, is one of the most isolated inhabited places in the world. Its archaeological record, including megalithic statues, has captured the imagination of many. Two major controversies have emerged from extensive study of the island. First, its history is presented as a cautionary tale of overexploitation of resources leading to a large-scale population decline – the “ecocide” theory. Second, the possibility of a voyage across the Pacific Ocean to the Americas before European contact is still debated. To answer these questions, a team of scientists from the Globe Institute and elsewhere sequenced and analyzed the genomes of 15 Rapa Nui people who lived between 1670 and 1950.

Rapa Nui is one of the most isolated inhabited islands in the world.

It lies at the easternmost tip of the Polynesian Triangle in the Pacific Ocean, 3,700 km west of South America and over 1,900 km east of the nearest inhabited island.

Despite Rapa Nui's remote location, archaeological and genetic evidence indicates that Polynesians from the west had already arrived on the island around 1250 AD.

Over the next five centuries, Rapa Nui's inhabitants, the Rapanui, developed a culture characterized by iconic colossal stone statues (moai) and monumental stone platforms (ahu).

Due to Rapa Nui's isolation, Europeans did not reach the island until 1722 AD.

Over the years, European visitors have had a devastating impact on Rapa Nui, killing locals and introducing deadly pathogens the islanders had never encountered before.

Moreover, a third of the population was kidnapped by Peruvian slave raiders in the 1860s, and only a small proportion were repatriated following international condemnation of slavery.

A smallpox epidemic subsequently decimated Rapanui's population, down to an estimated 110 people.

“It is well known that Rapa Nui's environment was affected by human activities such as deforestation, but it was unknown whether and how these changes led to a dramatic population decline,” said Dr Anna Saffo Malaspinas, a researcher at the University of Lausanne and the Swiss Institute of Bioinformatics.

The Tahitian warrior's shelter from Giulio Ferrario's Le Costume Ancien et Moderne, Milan, 1816-1827.

The authors studied the genomes of 15 ancient inhabitants who lived on the island over the past 500 years.

They found no evidence of a genetic bottleneck corresponding to the 17th century collapse.

The analysis suggests that the island was originally inhabited by a small number of people, but its population grew steadily until Peruvian slave raids in the 1860s forced a third of the island's population to relocate.

Furthermore, the analysis showed that, like modern-day Rapa Nui people, the ancient islanders also carried Native American DNA.

This mixing probably occurred sometime between 1250 and 1430 AD.

Taken together with archaeological evidence and oral history, the find suggests that Polynesians may have been crossing the Pacific long before Europeans arrived on Rapa Nui and long before Columbus reached the Americas.

“Our genetic analysis shows that there was a steady population growth from the 13th century until contact with Europeans in the 18th century,” said Dr Barbara Souza da Mota, a researcher at the University of Lausanne.

“This stability is extremely important because it directly contradicts the idea of a dramatic pre-contact population decline.”

“We investigated how Native American DNA is distributed in the genetic background of Rapa Nui Polynesians,” said Dr Victor Moreno Mayar, a researcher at the Globe Institute at the University of Copenhagen.

“This distribution is consistent with contact occurring between the 13th and 15th centuries.”

“Our study doesn't tell us where this contact occurred, but it may mean that the ancestors of the Rapanui reached the Americas before Christopher Columbus,” Dr Malaspinas said.

of Survey results Published in a journal Nature.

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JV Moreno Mayal others2024. Ancient Rapanui genome reveals resilience and pre-European contact with the Americas. Nature 633, 389-397;doi: 10.1038/s41586-024-07881-4

Source: www.sci.news

Research shows that specific genetic alterations could lead to premature menopause

Posted on September 11, 2024 by Igor Mitreski

New research has identified four genes that, if altered, could impact the age at which menopause occurs. These genes (ETAA1, ZNF518A, PNPLA8, and PALB2) were found to cause women to experience menopause two to 5.5 years earlier if they have only one functioning copy. The study, conducted by scientists from the Universities of Exeter, Cambridge, and Wellcome, was published in Nature.

Understanding these genetic changes is crucial for potential therapies to extend reproductive lifespan and plan for the impact of menopause on women’s career and life plans. The study also found links between these genetic changes and cancer risk, highlighting the importance of further research in this area.

These genetic changes can lead to the DNA damage of eggs, affecting the age at which menopause occurs. The study analyzed data from 106,973 postmenopausal women and found that rare genetic changes have a significant impact on the age at menopause. These changes not only shed light on menopause but also provide insight into disease risks.

Dr. Stasha Stankovic, Dr. Hilary Martin, and Professor John Perry, members of the research team, emphasized the importance of understanding ovarian function for reproductive health and disease prevention. They hope that further research in this area will lead to new treatments for ovarian-centered diseases and help predict age at menopause more accurately.

The study also revealed that changes in a mother’s DNA can impact the DNA passed on to her child, showing a link between genetic mutations and the rate of DNA changes. This discovery is significant in understanding the biological mechanisms behind infertility, reproductive disorders, and disease predisposition.

About our experts

Dr. Stasha Stankovic is a reproductive geneticist with a PhD in Reproductive Genomics from the University of Cambridge. Her research has been published in top scientific journals such as Nature, Nature Medicine, Nature Genetics, and Cell Genomics.

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Source: www.sciencefocus.com