Tag Archives: genetic

“Biopiracy Battle: The High-Stakes Race for Nature’s Genetic Wealth”

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pictureEven in the warm summer sunshine, the stagnant pools and rugged rock faces of Ribblehead Quarry in North Yorkshire feel like an unlikely frontier for the AI industrial revolution. Standing next to a waterfall gushing from broken rock, Bupe Mwambingu reaches his hand into the green mud behind the falls and emerges with a handful of algae.

Balancing precariously on the rock, the researcher passes the dripping glob to his colleague Emma Bolton, who uses a mobile app to record GPS coordinates as well as acidity, temperature, and light exposure.

“Be careful,” Bolton told Mwambing, who stumbled over the edge of the waterfall, and the two moved on to another part of the former limestone quarry in search of more dirt and debris.

The pair work for London-based startup Basecamp Research and are collecting genetic information. This is information from the organisms hiding in the nooks and crannies of rocks. In the past, scientists hoping to develop new products from rare lichens, microbes, or fungi had to travel to their habitats to collect samples. Now, most of the genetic code from these organisms is exchanged digitally through genetic signatures called digital sequence information (DSI).




Samples are collected carefully to avoid contamination. Photo: Rebecca Cole/The Guardian

The back-and-forth is at the heart of an international battle over who owns the world’s genetic data and who should benefit from the multi-billion-dollar discoveries that could result from it. In October, world leaders met to discuss the issue. Cali, Colombia attends COP16The World Biodiversity Summit was held to reach a first-of-its-kind global agreement on the issue.

Low-income countries, where much of the world’s remaining biodiversity remains, are hoping to pump billions of dollars into protecting the rainforests, lakes, and oceans where it resides.

Source: www.theguardian.com

Rare genetic mutation results in stunning blue-skinned frog

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The magnificent tree frog (Litoria splendida) is normally green, but this mutant is blue

J Barker/AWC

A rare blue frog found in the Kimberley region of Western Australia has stunned researchers who say the unusual colouring is probably due to a genetic mutation causing it to lose certain skin pigments.

As its name suggests, the magnificent tree frog (Litoria splendida) is already a spectacular animal, so when Jake Barker When he saw a bright blue specimen on a bench in a workshop at the Australian Wildlife Conservancy’s Charnley River-Artesian Range Wildlife Sanctuary in April, he was shocked.

The amphibians are normally a vibrant green, which is a common colour for tree frogs and is thought to camouflage them.

“I knew as soon as I saw it that it was rare,” says Barker. “It’s not often that you get to see a blue frog.” It has been seen a number of times since, but won’t be captured for research, he says.

“It’s far too pretty and far too unique and it would be a pity to take it away from its natural habitat,” says Barker. “We’ll leave it to live out its days and hopefully get to see it many more times in the future.”

Jodi Rowley At the Australian Museum in Sydney, the animal may be the “most beautiful, aberrant-coloured frog” that she has ever seen. “And I have seen tens of thousands of frogs.”

From the photos she has seen, Rowley says the frog is at least 2 to 3 years old. The species may live to be 20 years old, so the blue individual is likely to be around for a while unless caught by a predator.

She says the frogs’ skin colour is determined by the combination of three chemicals – melanophores, which provide blacks and browns; xanthophores, which provide yellow pigments; and iridophores, which reflect blue colours. Normally, the yellows and blues combine to make green, but it is thought the new blue frog has a mutation that means it is missing the yellow pigments and the blue dominates.

“Blue is probably a bit more obvious to predators,” says Rowley, “which is why we don’t see many blue frogs.”

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Source: www.newscientist.com

New research reveals deeper insights into the genetic factors influencing coffee consumption

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Coffee is one of the most widely consumed beverages. In a new study, scientists from the University of California, San Diego and others conducted a genome-wide association study (GWAS) of coffee intake among US-based 23andMe participants. They investigated genetic correlations and conducted a phenotype-wide association study across hundreds of biomarkers, health, and lifestyle traits, and compared their results with the largest GWAS of coffee intake from UK Biobank.

Coffee drinking is an inherited habit and carries a certain amount of genetic load. Image courtesy of Sci.News.

“To create the GWAS, we collected genetic data and self-reported coffee consumption,” said lead author Dr. Hayley Thorpe, a researcher at Western University and the University of Guelph.

“Our goal was to identify associations between genes known to be associated with coffee consumption and health-related traits and conditions.”

“We used these data to identify regions in the genome that are associated with a higher or lower likelihood of drinking coffee.”

“And then we identify the genetics and biology that underlie coffee consumption.”

“Many people are surprised that coffee consumption has genetic effects,” said co-author Abraham Palmer, PhD, a research scientist at the University of California, San Diego.

“From previous papers, we had good reason to suspect that there was a gene that influenced coffee intake.”

“So it wasn’t a surprise to us that in both cohorts we looked at, there was statistical evidence that this is a genetic trait.”

“In other words, the specific genetic variants we inherit from our parents influence how much coffee we drink.”

“The genetic influence on coffee consumption was the first of two questions we wanted to answer,” said Sandra Sanchez Loij, PhD, a research scientist at the University of California, San Diego and senior author of the paper.

“The second thing is what coffee lovers really want to know: Is drinking coffee good or bad? Does drinking coffee have positive health consequences or not?”

The group’s genome-wide association study of 130,153 US-based 23andMe study participants, compared with a similar UK Biobank database (334,649 British individuals), found consistent positive genetic associations between coffee consumption and adverse health outcomes such as obesity and drug use.

A positive genetic association is a link between a particular gene variant (genotype) and a particular condition (phenotype).

Conversely, a negative genetic association would be a clear protective trait that would thwart the onset of the disease.

When it comes to mental illness, the findings are more mixed.

“For example, if you look at the genetics of anxiety disorders, bipolar disorder and depression, in the 23andMe data, they tend to be positively correlated with the genetics of coffee consumption,” Dr. Thorpe said.

“However, in UK Biobank we see the opposite pattern of negative genetic correlation, which is not what we expected.”

“There were other instances where the 23andMe sets did not match the UK Biobank, but the biggest discrepancies were for psychiatric disorders.”

“It’s common in this field to combine similar datasets to increase research power. This information tells us pretty clearly that combining these two datasets was not a smart idea. And we ended up not doing so.”

“Mixing databases can mask effects, leading researchers to erroneous conclusions, or even cancel each other out.”

“There are a few ideas as to how the differences in results could have arisen. First, the studies were comparing apples with oranges,” Dr. Sánchez Loisi said.

“For example, the 23andMe survey asks, ‘How many 5-ounce (cup-sized) cups of caffeinated coffee do you drink per day?’ Compare this to UK Biobank’s, ‘How many cups of coffee do you drink per day (including decaffeinated coffee)?'”

“The study did not take into account the variety of ways coffee is presented, beyond serving size and whether it’s caffeinated or decaffeinated.”

“We know that in the UK instant coffee is generally preferred, whereas in the US ground coffee is more commonly preferred,” Dr Thorpe said.

“And then there’s the Frappuccino, the American fad of drinking coffee loaded with added sugar,” Dr. Sánchez Loij added.

“There are other caffeinated drinks out there and, particularly in the UK Biobank context, tea was not included in the GWAS that looked solely at coffee,” Dr Palmer said.

“GWAS shows that the genotype-phenotype relationship is more different than that between coffee and tea.”

“Genetics influences a lot of things. For example, it influences your height.”

“And these things would probably play out in the same way whether you lived in the US or the UK. But coffee is a decision people make.”

“Coffee comes in many forms, from instant to Frappuccino, and is consumed within different cultural norms in different places,” Dr Sánchez Loij said.

“Someone with one genotype may end up with a completely different phenotype if they live in the UK and the US.”

“And that’s exactly what the data tells us, because in the case of height, behavior doesn’t really matter, but behavior and selection in the environment affect it in different ways. So genotype-environment interactions complicate the picture.”

Team paper Published in the journal Neuropsychopharmacology.

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HHA Soap othersGenome-wide association study of coffee consumption in UK/US participants of European descent revealed cohort-specific genetic associations. NeuropsychopharmacologyPublished online April 17, 2024, doi: 10.1038/s41386-024-01870-x

Source: www.sci.news

New genetic research on flowering plants changes the tree of life at a large scale

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The pink lapacho tree is one of approximately 300,000 species of flowering plants

Roberto Okamura Tetsuo/Shutterstock

Botanists have used genome data from more than 9,500 species to map evolutionary relationships among flowering plants. The newly compiled Tree of Life will help scientists piece together the origins of flowering plants and inform future conservation efforts.

Approximately 90 percent of plants that live on land are flowering and fruiting plants called angiosperms. These flowering plants are essential to maintaining Earth's ecosystems, including storing carbon and producing oxygen, and they make up a large portion of our diet.

“Our very existence depends on them,” he says. william baker At the Royal Botanic Gardens in Kew, England. “That's why we need to really understand them.”

For the past eight years, Baker and his colleagues have been working to complete the Tree of Life, which describes the evolutionary relationships between all genera of plants and fungi.

Starting with flowering plants, the researchers designed molecular probes to search for 353 specific genes found in the nucleus of all angiosperms. “The nuclear genome is huge,” Baker says. “So we needed to focus on a specific set of genes.”

Researchers have so far sequenced the genes of 9,506 species of flowering plants, primarily using specimens from collections and public databases around the world. This represents nearly all known angiosperm families and approximately 8,000 of the 13,400 recorded genera.Some of the specimens collected in the analysis are more than 200 years old; Arenaria globifloraand many Guadalupe Island olives (Espererea Palmeri).

By comparing the similarities in the gene sequences of different flowering plants, researchers were able to figure out where they fit on the tree of life.

Baker says this is the most comprehensive survey of angiosperms to date. “We often liken it to the periodic table of elements,” he says. “It's the basic framework for life.”

angiosperm tree of life

Royal Botanic Gardens, Kew

Angiosperms emerged about 140 million years ago and have rapidly flourished, overtaking flowerless gymnosperms to become the world's dominant plant species. The sudden appearance of the diversity of flowering plants in the fossil record has baffled scientists for the past few centuries, and Charles Darwin called it “a hideous mystery.”

Now, the Tree of Life confirms that about 80 percent of the major flowering plant lineages that still exist today were part of this early boom in angiosperm diversity. “We can't say we've solved this 'damn mystery,' but at least we can say it really does exist,” Baker said.

The tree of life also highlights a further surge in diversity that occurred around 40 million years ago, possibly caused by a drop in global temperatures at the time.

In the future, he says, the Tree of Life could also help in the search for plants with pharmaceutical properties for new drugs. Ilia Leech, another member of Cue's team. It also helps scientists identify new species and assess which species are most vulnerable to climate change.

“This is the latest and greatest evolutionary framework for conducting new research that approaches the mechanisms that have allowed flowering plants to take over the world,” he says. ryan falk at Mississippi State University.

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Source: www.newscientist.com

Kuhl: Genetic Mutations Could Provide Protection Against Brain Diseases Linked to Cannibalism

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Cerebellum of a person suffering from kuru disease

Liberski PP (2013)

Genetic research in a very remote community in Papua New Guinea has revealed new insights into a brain disease that is spread when people eat dead relatives and has killed thousands of people over two decades.

Dotted with mountains, gorges, and fast-flowing rivers, Papua New Guinea’s Eastern Highlands province is extremely isolated from the rest of the world, and it wasn’t until the beginning of the 20th century that outsiders realized that about 1 million people lived there.

Some tribes known as the Fore practiced a form of cannibalism called “funeral feasts,” in which they consumed the bodies of their deceased relatives as part of their funeral rites. This could mean they ingested an abnormally folded protein called a prion, which can cause a fatal neurodegenerative condition called kuru associated with Creutzfeldt-Jakob disease (CJD). However, the local people believed that the Kuru phenomenon was caused by witchcraft. At least 2,700 Kuru deaths have been recorded in the eastern highlands.

Simon Mead Researchers at University College London examined the genomes of 943 people representing 68 villages and 21 language groups in the region. Although this region of Papua New Guinea covers just over 11,000 square kilometers, smaller than Jamaica, researchers say the different groups are as genetically different as the peoples of Finland and Spain, some 3,000 kilometers apart.

The study found that not everyone who attended the funeral died from the disease. Mead and his colleagues say it appears communities were beginning to develop a resistance to kuru, which led to tremors, loss of coordination, and, ultimately, death.

The study found that some of the elderly women who survived the feast had mutations in the gene encoding the prion protein, which likely conferred resistance to kuru disease.

By the 1950s, funeral feasts had become illegal, and the kuru epidemic began to subside, but visitors say that the number of women in some villages had dwindled because so many women had died from kuru. It pointed out. Mead said women and children are most susceptible to the disease, likely because they ate the brains of deceased relatives.

However, genetic evidence shows that despite fears of the disease, there was a large influx of women into Fora tribal areas, particularly in areas where the highest levels of kuru were present.

“We believe it is likely that the sexual prejudice caused by Kuru caused single men in Kuru-affected communities to look further afield for wives than usual because they were unable to find potential wives locally. “We will,” Meade said.

He said the team wants to understand what factors confer resistance to prion diseases such as CJD, which caused a severe epidemic in the UK in the 1990s.

“[Our work sets] “This is a site to detect genetic factors that may have helped the Fore people resist kuru,” Mead said. “Such resistance genes may suggest therapeutic targets.”

Ira Debson Researchers from the Garvan Institute of Medical Research in Sydney, Australia, say the study provides new insight into the “rich and unique cultural, linguistic and genomic diversity” of the Eastern Highlands region.

“This is a demonstration of how genomics can be used to look almost back in time, reading the genetic signature of past epidemics and understanding how they have shaped today’s populations. It helps.”

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Source: www.newscientist.com

Researchers unravel the genetic code of the Etruscan shrew

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Scientists sequenced and analyzed the genome. Etruscan shrew (Suncus etruscus), with an average weight of about 2 grams, it is one of the world’s smallest mammals. This reference-quality genome is an important resource for studies of mammalian development, metabolism, and body size control.

Etruscan shrew (Suncus etruscus). Image credit: Trebol-a / CC BY-SA 3.0 Certificate.

The Etruscan shrew, also known as the white-toothed pygmy shrew, is recognized as one of the smallest living mammals.

This species weighs 1.2 to 2.7 grams and has a body length of 3.6 to 5.3 cm (1.4 to 2.1 inches), with a very large surface area to volume ratio.

As a result, shrews have very high metabolic rates and must consume approximately 1.5 to 2 times their body weight in food each day.

These unique physiological characteristics make the Etruscan shrew a valuable species to the scientific community, contributing significantly to various research fields such as behavioral science and neuroscience.

“High-quality genome assemblies are essential references to enable accurate high-throughput data analysis,” said computational biologist Dr. Yuri Bukman of the Morgridge Institute.

“This will provide valuable insight into the mechanisms of body size control and metabolic rate and will facilitate comparative biological studies.”

In their research, Dr. Buchmann and his colleagues sequenced and assembled the genome of a male Etruscan shrew using protocols developed by the Vertebrate Genome Project.

“Our new Etruscan shrew genome is the first chromosome-level genome assembly for the order Shrews. lilypotyphra,” they said.

The authors manually inspected the primary assembly and identified 22 chromosomes, including the X and Y sex chromosomes.

They also identified 39,091 genes, 19,819 of which were protein-coding genes.

“We found that the shrew genome has relatively little duplication,” Dr. Buchmann said.

“This result does not necessarily correlate with the smallness of the shrew itself.”

“Although shrews belong to a different mammalian family, some similarly small rodents have a lot of overlapping body segments, and Mus musculus is like the champion in the sense that it has the most overlapping segments. So it’s not a question of size.”

of result It was published in the magazine scientific data.

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YV Buchman other. 2024. Chromosome-level genome assembly of the Etruscan shrew Suncus etruscus. scientific data 11, 176; doi: 10.1038/s41597-024-03011-x

Source: www.sci.news

Kuhl: Genetic mutations could provide protection against brain diseases linked to cannibalism

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Cerebellum of a person suffering from kuru disease

Liberski PP (2013)

Genetic research in a very remote community in Papua New Guinea has revealed new insights into a brain disease that is spread when people eat dead relatives and has killed thousands of people over two decades.

Dotted with mountains, gorges, and fast-flowing rivers, Papua New Guinea’s Eastern Highlands province is extremely isolated from the rest of the world, and it wasn’t until the beginning of the 20th century that outsiders realized that about 1 million people lived there.

Some tribes known as the Fore practiced a form of cannibalism called “funeral feasts,” in which they consumed the bodies of their deceased relatives as part of their funeral rites.

This could mean they ingested an abnormally folded protein called a prion, which can cause a fatal neurodegenerative condition called kuru associated with Creutzfeldt-Jakob disease (CJD). there was. However, local people believed that the Kuru phenomenon was caused by witchcraft. At least 2,700 Kuru deaths have been recorded in the eastern highlands.

simon mead Researchers at University College London examined the genomes of 943 people representing 68 villages and 21 language groups in the region. Although this region of Papua New Guinea covers just over 11,000 square kilometers, smaller than Jamaica, researchers say the different groups are as genetically different as the peoples of Finland and Spain, some 3,000 kilometers apart. ing.

The study found that not everyone who attended the funeral died from the disease. Meade and his colleagues say it appears that communities were beginning to develop a resistance to kuru, which led to tremors, loss of coordination and, ultimately, death.

The study found that some of the elderly women who survived the feast had mutations in the gene encoding the prion protein, which likely conferred resistance to kuru disease.

By the 1950s, funeral feasts had become illegal and the kuru epidemic began to subside, but visitors say that the number of women in some villages had dwindled because so many women died from kuru. It pointed out. Mead said women and children are most susceptible to the disease, likely because they ate the brains of deceased relatives.

However, genetic evidence shows that despite fears of the disease, there was a large influx of women into Fora tribal areas, particularly in areas where the highest levels of kuru were present.

“We believe it is likely that the sexual prejudice caused by Kuru caused single men in Kuru-affected communities to look further afield for wives than usual because they were unable to find potential wives locally. “We will,” Meade said.

He said the team wants to understand what factors confer resistance to prion diseases such as CJD, which caused a severe epidemic in the UK in the 1990s.

“[Our work sets] “This is a site to detect genetic factors that may have helped the Fore people resist kuru,” Mead said. “Such resistance genes may suggest therapeutic targets.”

Ira Debson Researchers from the Garvan Institute of Medical Research in Sydney, Australia, say the study provides new insight into the “rich and unique cultural, linguistic and genomic diversity” of the Eastern Highlands region.

“This is a demonstration of how genomics can be used to almost look back in time, reading the genetic signature of past epidemics and understanding how they have shaped today’s populations. It helps.”

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Source: www.newscientist.com

Genetic technology capable of eradicating superweeds through targeted plant destruction

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Herbicide-resistant pigweed is a serious problem for farmers

Design Pics Inc / Alamy Stock Photo

Gene drives – bits of DNA that trick evolution and can spread even if they are harmful – have been successfully tested in plants for the first time. This approach can be used to clear out invasive plants and superweeds without harming other species, potentially reducing herbicide use. It could also help save species by spreading genes that make them more resistant to disease and better able to cope with global warming.

Genes work by distorting the probability that an organism will inherit a piece of DNA. Most plants and animals have two copies of each gene. This usually means that there is a 50% chance that a particular copy will be passed on to offspring. With a gene drive, the chance increases to, say, 80 percent, allowing genes to spread even if they are harmful.

There are many natural gene drives that function through different mechanisms. In 2013, the first artificial gene drive was created using CRISPR gene editing technology.

It copies itself from one chromosome to another. That is, all descendants inherit it. This approach is called a homing gene drive because the drive itself is copied to a specific site.

bruce hay The researchers at the California Institute of Technology used a different approach called cleave-and-rescue. The gene drive consists of CRISPR elements that target and destroy copies of both key genes needed for pollen and egg formation. However, the drive also contains a version of this gene that functions without being destroyed.

This means that pollen and eggs that do not inherit the gene drive will lack important genes and will not develop. Only pollen and eggs with the gene drive will develop normally, so all offspring will inherit it.

Hay says the cleave-and-rescue approach is more robust than homing drives because it's much easier to destroy genes than to copy and paste them. He says it works on all animals, not just plants, and could be used to rid islands of rats and mice that are wiping out native species.

Hay's team tested a working version of this drive – one designed only to spread, not kill – on Thale cress. Arabidopsis.Another team led by Yang Liu Chinese Academy of Sciences Even in Beijing I have submitted a paper describing a similar gene drive But that approach isn't as powerful, Hay says.

He and his team are currently planning driving tests in Pigweed (amaranth palmeri), a herbicide-resistant superweed and a major problem for farmers in many parts of the world. “This is the poster child for developing broad-based resistance to all existing herbicides,” Hay says.

Additionally, this technology could be adapted to control weeds without spreading indefinitely. For example, pollen could be used to create male plants that kill all female offspring. Planting these male plants annually around the farm will prevent seed production and eradicate the weed species from the field after a few years.

“If you just exclude women, you end up collapsing the entire local population, but not the global population,” Hay says. However, this female-killing trait will disappear if no male plants with it are planted.

Hay said this approach is much more likely to be approved by regulators than gene drives, which continue to spread until resistance emerges. In fact, a similar approach is already being used in several countries by a company called Oxitec to control malaria-carrying mosquitoes.

but, paul nave Researchers at the University of Copenhagen in Denmark doubt whether regulators will approve the use of gene drives to control weeds. “I think the chances of getting approval to release gene drives for agricultural use are low at this point. Healthcare and biodiversity conservation may be an easier sell,” he says.

Another big problem, Neve says, is that plants typically produce only one generation per year, and it takes 10 to 30 generations for drives to become widespread. “How can we spread gene drives fast enough to achieve meaningful weed control in a realistic time frame?”

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Source: www.newscientist.com

Delaying Alzheimer’s Disease with a Genetic Mutation

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Alzheimer’s disease is the most common form of dementia, affecting millions of people worldwide. This disease affects the parts of the brain that control memory, thinking, and language. Most commonly, people with Alzheimer’s disease begin to show symptoms. mid 60’s. Scientists have shown that some rare cases of Alzheimer’s disease are caused by a genetic mutation known as PSEN1-E280A, which causes people to develop Alzheimer’s disease as early as their mid-40s, and that this The condition is called early-onset Alzheimer’s disease.

Scientists have identified a Colombian man who carries the gene for early-onset Alzheimer’s disease and a second genetic mutation called the RELN-COLBOS mutation. This man maintained a fully functioning brain for about 30 years longer than the average person with early-onset Alzheimer’s disease. Scientists hypothesized that his genetic mutation could help develop treatments to help others resist Alzheimer’s disease. But additional case studies were needed to find out whether the genetic mutation was the sole reason for the man’s resistance to the disease.

Researchers in Columbia recently set out to study patients with the RELN-COLBOS mutation to see how it may help fight early-onset Alzheimer’s disease. They enrolled the patient in an international collaboration.Antioch University in Columbia and Massachusetts General Hospital in Boston; called Columbia-Boston Biomarker Research Program.This program includes: More than 6,000 participants took part, including those with and without genes known to cause Alzheimer’s disease.

Researchers compared a Colombian man with the RELN-COLBOS mutation to young-onset Alzheimer’s disease patients who do not carry this mutation to determine whether they develop the disease through different pathways. They compared each patient’s cognitive decline in terms of their motor function, number of neurons firing in their brains, and signal strength. They also measured proteins in each patient’s brain that are known to help with memory and learning, such as Dab1 and Tau proteins.

The researchers also collected brain tissue from the man. They performed a type of genetic profiling called. Single cell RNA sequencing Examining his brain tissue revealed that he PSEN1-E280A Gene that causes early-onset Alzheimer’s disease. They used this same method to determine which RELN mutation he had.

They explained that the RELN gene normally tells the body how to make the protein Reelin, which controls brain development.. This man had a mutation in his RELN gene that codes for a different amino acid. Researchers have observed similar mutations in people with other brain-related diseases such as schizophrenia, bipolar disorder, and autism. They named it the RELN-COLBOS mutation, after their research program.

The researchers then looked at the men’s brains using several medical imaging techniques, including positron emission tomography. PET scanmagnetic resonance imaging, or MRI scan. They examined these images of the man’s brain for signs of disease or other abnormalities.

They found that the men’s brains contained large amounts of amyloid beta protein. They explained that this protein causes the loss of neurons and neural connections in Alzheimer’s patients.But the men’s brains were also found to have lower-than-normal levels of another protein called tau protein, which is usually associated with Alzheimer’s disease.. They explained that Alzheimer’s patients typically have high amounts of the protein tau, which disrupts the internal skeleton of neurons and impairs thinking and memory. The researchers suggested that the man’s low levels of tau protein in his brain were part of his resistance to Alzheimer’s disease.

Based on how the RELN-COLBOS mutation acted in this man, scientists hypothesized that it was the cause. Gain-of-function (GOF) mutations. GOF mutations occur when a mutated gene acquires a new function. In other words, it will work differently than it should. For example, a coffee machine’s function is to make coffee, but a GOF mutation could cause it to start making orange juice instead. They classified the RELN-COLBOS mutation as a GOF mutation because the normal function of the RELN gene is to produce the Reelin protein, but the mutant form instead slows down the production of the tau protein.

The researchers concluded that the new function of the RELN-COLBOS mutation may help the gene regulate neural circuits damaged by Alzheimer’s disease and other types of dementia. However, the researchers cautioned that the mutation’s impact on these diseases is modest, as it slows but does not prevent cognitive impairment. They say there are currently only a handful of cases available and that different genetic mutations may delay Alzheimer’s symptoms in the same patient, so future researchers could study other patients with the same mutations. I suggested that it should be done.


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Source: sciworthy.com

Plant researchers uncover answers to a 125-million-year-old genetic enigma

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researchers Cold Spring Harbor Laboratory We discovered two distantly related model plants. Arabidopsis And tomatoes (Solanum lycopersicum), very different control systems can be used to control the exact same gene. Incredibly, scientists have linked this behavior to extreme genetic modifications that occurred over the course of 125 million years of evolution.

Function of CLV3 in Arabidopsis And in tomato, the cis-regulatory sequences are conserved despite extreme divergence.Image credit: Shiren other., doi: 10.1371/journal.pgen.1011174.

Cold Spring Harbor Laboratory scientist Daniel Siren and his colleagues used genome editing to create more than 70 mutant strains of tomato and Arabidopsis plants.

Due to each mutation, CLV3.

The researchers then analyzed how each mutation affected plant growth and development.

when DNA is stored CLV3 Check-in has mutated too much and the fruit has grown explosively.

“CLV3 It helps in the normal development of plants,” Dr. Shiren said.

“If the switch hadn't been turned on at exactly the right time, the plant would have looked completely different.”

“None of the fruits are huge and ideal. You have to balance growth and yield.”

“If you only have two giant tomatoes on a plant, is that as beneficial as a reduced yield?”

“There are no easy solutions. When you try to improve something, you always end up sacrificing something.”

In the case of tomatoes, mutations occur near the beginning, but not at the end. CLV3 Genetics had a dramatic effect on fruit size.

for Arabidopsisthe regions surrounding both parts of the gene had to be destroyed.

This suggests that something happened over the past 125 million years that caused plants to evolve differently. What exactly happened remains a mystery.

“We can't go back to our common ancestors because they no longer exist,” Dr. Siren says.

“So it's hard to say what the original conditions were and how they were mixed together.”

“The simplest explanation is that there is a regulatory element that is conserved to some degree, and that is being changed in a subtle way. That's a little unexpected.”

“What is certain is that gene regulation is not uniform across plant species.”

“Uncovering these genetic differences could help make crop genome engineering more predictable.”

“And that would be a huge win not only for science, but also for farmers and plant breeders around the world.”

of study Published in a magazine PLoS Genetics.

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D.Siren other. 2024. Extreme reorganization of cis-regulatory regions controlling deeply conserved plant stem cell regulators. PLoS Genet 20 (3): e1011174; doi: 10.1371/journal.pgen.1011174

Source: www.sci.news

Closing the diversity divide in genetic research

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In biomedical research, understanding causes and physical characteristics, known as phenotypes, is crucial for correcting abnormalities like diseases. Scientists use genetic techniques to identify disease-associated locations within the human genome, a process known as Genome-wide association research (GWAS). This research helps predict disease risk and develop prevention or treatment strategies.

However, a significant issue with GWAS is the lack of diversity in the data, primarily comprising individuals of European descent. This limits the application of results to other ancestries like Asia or Africa. Previous studies on rheumatoid arthritis have highlighted this limitation.

Using GWAS analysis, scientists generate statistics to predict an individual’s likelihood of developing traits or diseases based on their genetics, resembling a polygenic score report card. This analysis also shows how genes are inherited and their impact on traits like height, weight, and blood pressure.

To address this diversity gap, researchers from Australia, Japan, Taiwan, and South Korea integrated European polygenic scores into genetic studies of various ancestries.

They utilized data from biobanks like UK Biobank, Biobank Japan, Taiwan Biobank, and Korea Genome Epidemiology Study, analyzing traits such as height, BMI, blood pressure, and diabetes. Statistical models helped calculate polygenic scores and evaluate GWAS results alongside European scores.

Their method aimed to enhance medical discoveries for underrepresented populations by analyzing genome segments unique to certain traits. They found that adjusting GWAS with polygenic scores improved the detection of rare genetic differences and trait relationships.

While primarily focusing on East Asian data, the authors suggested applying this method to other ancestries using polygenic scores. Although computationally intensive, this method shows promise in improving genetic data analysis for future GWAS studies.

In conclusion, the authors believe that their method will enhance genetic data exploration and can be easily integrated with existing GWAS software tools. They encourage researchers to utilize this method, particularly with underrepresented population data, to study genetic interactions and their effects on traits and diseases.


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Source: sciworthy.com

The Genetic Origins of Multiple Sclerosis in Northern Europeans Revealed by Ancient DNA

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Northern Europeans have a higher risk of multiple sclerosis due to ancient DNA, a study reveals. About 5,000 years ago, people flocked to this area.

This discovery emerged from a large-scale study comparing modern DNA with DNA obtained from ancient human teeth and bones. This allowed scientists to explore prehistoric migration and associated disease-related genes.

Results show that when the Yamnaya people migrated from present-day Ukraine and Russia to northwestern Europe during the Bronze Age, they carried a genetic mutation. This mutation is now known to increase the risk of multiple sclerosis.

The study, published in the journal Nature, suggests that these genes not only allowed the Yamnaya to flourish and spread but also protected them from infectious diseases carried by cattle and sheep.

The project, led by Eske Willerslev and the University of Copenhagen, is pioneering ancient DNA research and comparing it to similar research, including tracking down early cousins such as Neanderthals.

The process of ancient DNA extraction at the Lundbeck Foundation Geogenetics Center in Copenhagen.Michal Schlosser / University of Copenhagen (via AP)

This gene bank’s first exploration of multiple sclerosis is especially relevant since the disease is most common among people of white Scandinavian descent, yet the reason remains unknown.

Scientists believe certain infections can cause MS in genetically susceptible individuals. Over 230 genetic mutations have been identified that may increase the risk of this disease.

The study uncovered major changes in the population of northern Europe, tracing the migration of the Yamnaya people around 5,000 years ago. The gene bank was used to compare ancient DNA with around 400,000 modern humans

Comparisons revealed that MS-related genetic variants remained in the north, the direction the Yamnaya migrated, rather than in southern Europe. This supports the idea that the Yamnaya people are the closest ancestors of modern Danes, and the incidence of MS is particularly high in Scandinavian countries.

Dr. Astrid Iversen from the University of Oxford explains how exposure to animal-based bacteria may lead to imbalances in the immune system, possibly playing a role in the early development of autoimmune diseases.

While the study provides a potential explanation for the North-South MS disparity in Europe, further research is required to confirm the link. This statement comes from New York’s M.D., Samira Asghari, a genetics expert at Sinai School of Medicine, who was not involved in the study.

Source: www.nbcnews.com

Researchers map the genetic code of sea cucumbers residing in hydrothermal vents

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Chinese researchers have mapped the entire genome. chiridotaheheva a type of sea cucumber collected at a depth of 2,428 m during a submarine trip to a hydrothermal vent.

Chirodotaheheba In the Gulf of Mexico. Image credit: Aquapix and Expedition to the Deep Slope 2007.

The sea cucumber is echinoderm and as such are related to sea urchins and starfish, a group of animals with a very unusual body design.

They are found on the ocean floor around the world, where they devour detritus and use their tentacles to explore sediments.

Although other high-quality sea cucumber genomes are available, this study provides the first genome of a sea cucumber specimen. chiridotaheheva — collected at a hydrothermal vent.

beginning explained In 2004, chiridotaheheva It is known from the deep waters of the Western Atlantic Ocean, but has an international distribution.

It is one of the few echinoderms. occupy All three types of chemosynthetic ecosystems are included: hydrothermal vents, cold seeps, and organic fallouts. This suggests that this species is well adapted to the reducing environment of the deep sea.

Unlike most species that live in cold or hydrothermal vents; chiridotaheheva It does not host chemosynthetic bacteria.

It obtains nutrients from a variety of sources and extracts organic components from sediment debris, suspended solids, and wood debris when available.

“The organisms found in hydrothermal vents are among the most unique life forms on Earth, having evolved special adaptations to survive and reproduce in these harsh conditions,” said the lead author. Dr. Eugene Pu by Sanya Institute of Deep Sea Science and Technology and colleagues.

“For example, many microorganisms employ special metabolic functions to cope with the abundance of sulfur and iron and to withstand the enormous heat near the vent.”

“In addition to microorganisms, there are also multicellular and higher-order organisms that have adapted to the conditions of hydrothermal vents, such as various types of nematodes, snails, crabs, and shrimp.”

In the study, the authors sequenced the genome of an individual. chiridotaheheva collected from the ocean floor of the Indian Ocean Kairei Bent Field (2,428 meters deep).

“The water around the Kailey vent is particularly rich in dissolved iron, compounded by the harsh conditions of high hydrostatic pressure, darkness, and temperature fluctuations,” the researchers said.

“Initial comparative genomic analyzes showed that several gene families are expanded in this sea cucumber, meaning that this species has a higher repertoire of certain gene sets than closely related species. To do.”

“These expanded and unique genes are involved in DNA repair and iron metabolism, among other processes. It shows for the first time that it is reflected.”

“The genomic data will provide a valuable resource for further research on both sea cucumbers and unique spout animals.”

of result appear in the diary Giga Science.

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Y Pooh other. 2023. High-quality chromosome genome assembly of sea cucumber chiridotaheheva and its hydrothermal adaptation. Giga Science, in press. doi: 10.1093/gigascience/giad107

Source: www.sci.news

Can Natural Genetic Factors Lead to Having More Children in a Shorter Time?

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Scientific Evidence Backs Antagonistic Pleiotropy Theory of Aging

Comprehensive studies have confirmed the antagonistic pleiotropy theory of aging, indicating a genetic correlation between high fertility and shortened lifespan. Nonetheless, environmental factors are highlighted as major influencers of modern human lifespan and reproductive behavior.

New research further supports the idea that genes promoting early reproduction can accelerate aging but emphasizes the overriding role of environmental factors in determining longevity and reproduction.

Originating in a 1957 theory proposed by evolutionary biologist George Williams, the antagonistic pleiotropy theory posits that genetic mutations favoring early reproduction could simultaneously contribute to aging, making life shorter.

The theory was tested in a new study led by the University of Michigan, involving over 276,000 individuals, reaffirming its validity. The researchers found distinct genome-wide evidence supporting the theory.

A novel breakthrough discovery showcased a strong negative genetic correlation between reproduction and longevity, suggesting that mutations promoting reproduction tend to shorten lifespan. However, this link is also influenced by environmental factors.

It was established that the number and timing of reproduction can impact lifespan. Remarkably, having two children was linked to the longest lifespan, according to this study, reinforcing previous research findings.

The concept of pleiotropy suggests that a single mutation can impact multiple traits, while antagonistic pleiotropy posits that mutations can be beneficial or harmful depending on various circumstances. The evolutionary basis of aging is seen through this lens.

In line with this, the study’s outcome points to significant environmental changes, such as lifestyle and technological advances, as opposed to genetic variants identified as drivers of human phenotypic changes.

Reference: “Evidence for the role of selection for reproductively advantageous alleles in human aging” by Erping Long and Jianzhi Zhang, December 8, 2023. DOI: 10.1126/sciadv.adh4990

Source: scitechdaily.com

Scientists at Stanford University identify shared genetic factor that offers protection against Alzheimer’s and Parkinson’s diseases

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Stanford Medicine and international collaborators have discovered that around 20% of individuals carry genetic mutations that reduce their risk of Alzheimer’s disease or Parkinson’s disease by 10% or more. This particular variant, known as DR4, has the potential to enhance future vaccines for these neurodegenerative diseases. In addition, the study found a potential link between the tau protein and both diseases, providing new possibilities for targeted therapies and vaccines.

The large-scale analysis included medical and genetic information from a wide range of individuals across different continents. This data analysis revealed that certain gene variants related to immune function are associated with a lower risk of developing Alzheimer’s and Parkinson’s diseases. Approximately one in five people possess a specific genetic mutation that provides resistance to both diseases.

The research, led by Stanford Medicine, indicates that individuals with this protective genetic mutation may be less likely to benefit from future vaccines aimed at slowing or stopping the progression of these common neurodegenerative diseases. Results from the analysis of medical and genetic data from hundreds of thousands of people from diverse backgrounds confirmed that carrying the DR4 allele increased the average chance of developing Parkinson’s or Alzheimer’s disease by more than 10%. New evidence has also surfaced suggesting that the tau protein, which is known for aggregating in the brains of Alzheimer’s patients, may also play a role in the development of Parkinson’s disease.

The study, published in the Proceedings of the National Academy of Sciences, was a collaboration between researchers at Stanford Medicine and international partners. The researchers involved in this study were Emmanuel Mignot, MD, Michael Gracius, MD, Iqbal Farooq, and Asad Jamal from Stanford Medicine, as well as Dr. Jean-Charles Lambert from Inserm, University of Lille, France. The lead author was Yan Le Nguyen, Ph.D., and other contributors included Dr. Guo Luo, Dr. Aditya Ambati, and Dr. Vincent Damot.

Further findings from the study showed that individuals with the DR4 allele were more likely to develop neurofibrillary tangles, characteristic of Alzheimer’s disease, in their brains. The study also suggests that tau, a protein central to Alzheimer’s disease, may have an unknown role in Parkinson’s disease.

DR4 is a particular allele of the DRB1 gene, which is a part of the human lymphocyte antigen complex. This complex is crucial in allowing the immune system to recognize the internal contents of cells. One of the significant findings of this study was that the specific peptide fragment that DR4 recognizes and presents is a chemically modified segment of the tau protein, which plays a role in both diseases. The study suggests that the DR4 allele could be used to create a vaccine targeting this modified peptide as a potential way to interfere with tau aggregation and the development of these neurodegenerative diseases. There may be potential to delay or slow the progression of the diseases in individuals who carry the protective variants of DR4.

The study also noted that the effectiveness of the vaccine may depend on the subtype of DR4 a person carries, which varies among different ethnic groups. For example, one subtype of DR4 that is more common among East Asians may be less protective against neurodegenerative diseases.

Source: scitechdaily.com

Rare genetic mutations may enhance treatment efficacy for migraine headaches

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Migraines can cause debilitation

Nikki Lloyd/Getty Images

An analysis of the genomes of 1.3 million people has revealed dozens of variations associated with migraine, which could lead to more effective treatments for migraines.

Up to 20% of adults worldwide are thought to experience migraines. Migraines are recurring headaches that are often difficult to treat and can interfere with daily life. Some people have sensory symptoms, such as flashing lights or tingling in the body, before the headache begins, but others do not. It is not known why these two types of migraine, known as migraine with aura and migraine without aura, exist.

“While it is well known that migraines run in families, it has not been easy to identify a clear genetic basis for each subtype,” he says. Debbie Hay at the University of Otago in New Zealand.

now, Kari Stephenson Researchers from the Icelandic biopharmaceutical company deCODE Genetics have identified a genetic variation that appears to influence whether people develop migraines.

Researchers analyzed the DNA of 1.3 million people in Iceland, Denmark, the UK, the US and Norway, and found that around 80,000 of them had experienced migraines.

They discovered 44 genetic mutations associated with the condition, 12 of which had never been reported before. Among these, the research team PRRT2 Genes that help control signaling between neurons are correlated with a greater risk of migraine with aura and epilepsy.

the other A rare mutant that suppresses the function of a gene SCN11A and KCNK5which play a role in transporting sodium and potassium between cells, respectively, and appear to prevent both types of migraines.

The discovery could lead to new treatments that target the causes of migraines, such as drugs that can inhibit the production of a protein encoded by migraines. SCN11A and KCNK5 gene.

“Findings like this should bring great hope to people who suffer from migraine,” Stefansson said. “Current treatments cannot completely eliminate the tendency to develop migraines, so there is a lot of room for better treatments.”

“While great advances have been made in migraine treatment recently, there is still much work to be done in understanding the mechanisms of migraine and how to tailor treatment to each patient,” Hay says.

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Source: www.newscientist.com