Articles tagged with Human Genetics
A team of Whitehead Institute scientists confirms that the human Y chromosome has not lost a single ancestral gene in the past 25 million years. The study, published in Nature, contradicts the 'rotting Y' theory and suggests the Y chromosome has been genetically stable since its divergence from other chromosomes 25 million years ago.
MDC researchers have identified a crucial function of the c-Maf gene in the development of neurons responsible for mechanosensory function. In mice with deleted c-Maf, high-frequency vibrations are not detected, leading to impaired touch sensation and early-onset cataracts.
Dr. Chris Overall's research has led to a better understanding of the human proteome, revealing key proteins controlling innate immunity and inflammation. His team discovered a molecular beacon that directs white blood cells to injury sites, stopping chronic inflammation.
Researchers have developed the Collaborative Cross, a reference manual of genetic variation in hundreds of specially-bred mice and their genetic sequences, which more closely mirror human genetic complexity. This resource could aid development of more effective treatments for various human diseases.
A team of scientists developed the Drosophila Genetic Reference Panel to study complex traits like cold tolerance and starvation resistance. The project reveals hundreds of novel candidate genes, shedding light on the genetic basis of these traits.
A new study suggests that Neanderthal demise was caused by a combination of cultural changes, interactions with modern human ancestors, and climatic forces. Computer modeling shows how the two groups interacted and mated, leading to hybridization and the eventual extinction of one group.
Researchers at Van Andel Research Institute have discovered a predictive marker for patient sensitivity to MET inhibitors in glioblastoma. The study may lead to the development of improved therapies for this deadly brain cancer.
Researchers discovered a genetic basis for people's preferences for fatty foods, finding that those with certain forms of the CD36 gene may prefer higher-fat foods and be at greater risk for obesity. The study suggests that genes related to fat perception may play a role in diet adherence and food preference.
A study published in PLOS ONE found that circular RNA molecules are more abundant than previously thought, comprising a substantial fraction of all transcripts identified for many genes. This discovery opens up new avenues for research into the potential functions and relevance of circular RNAs in human biology and health.
A new study sheds light on the earliest stages of human migration, suggesting that modern humans first settled in Arabia on their way out of Africa. Genetic analysis of mitochondrial DNA genomes provides evidence for an ancient ancestry within Arabia.
Researchers analyzed genetic data to find clues about human migration over 60,000 years ago. They found evidence for an ancient ancestry within Arabia, suggesting it was the first staging-post in the spread of modern humans around the world.
A new study reveals that pigeons' visible traits don't necessarily coincide with their genetic makeup, defying expectations. The research analyzed over 350 breeds and found that birds from different breeds can share similar traits, even if they are not closely related genetically.
A study analyzing human gut microbes as a complex system reveals patterns corresponding to excess body weight. The researchers found organizational shifts away from a normal state in the gut flora of obese individuals, which may account for their increased energy extraction capacity.
Research at Oregon State University found that disrupting circadian rhythms causes accelerated neurodegeneration, loss of motor function, and premature death. Disrupted clock mechanisms predispose the brain to neurodegeneration, which may cause more damage to the clock function.
Researchers have found genetic evidence suggesting that the Galapagos giant tortoise species Chelonoidis elephantopus may still exist in the wild, despite being thought extinct for over 150 years. The discovery was made by tracking the DNA of hybrid offspring between this species and another, C. becki, on Isabela Island.
Researchers at Case Western Reserve University have identified a gene activator, Mef2, crucial to the development of schistosomes in humans. The discovery provides a potential target for a vaccine to prevent the disease, which affects over 200 million people worldwide.
Researchers have identified a crucial role for FGF20 in the development of the mouse inner ear, revealing a potential target for regenerating outer hair cells and treating human deafness.
Researchers engineered Anopheles mosquitoes to produce higher levels of Rel2, an immune system protein that attacks malaria parasites. The study suggests that this approach could lead to the development of malaria-resistant mosquito populations.
Researchers identified conserved lincRNAs that affect brain development in zebrafish and found that their human versions have similar functions. The discovery provides a framework for studying lincRNAs, which are abundant but poorly understood molecules.
The SAV001 vaccine, developed by Dr. Chil-Yong Kang's team, has shown strong immune responses in preliminary tests with no adverse effects. It is the only HIV vaccine under development in Canada and one of few globally.
A new study found that human brain development differs from chimpanzees and macaques, with hundreds of genes showing unique developmental patterns in the prefrontal cortex. MicroRNA activity patterns also showed significant differences, potentially linked to human-specific changes in cognitive abilities.
Researchers at Stowers Institute for Medical Research confirm the molecular mechanics of a key regulatory complex implicated in human leukemia are conserved from yeast to humans. They also identify the common molecular shape at the center of the complex, which regulates gene expression through histone methylation.
Researchers discovered a correlation between low-frequency genetic deletions and decreasing height, suggesting that an excess of rare gene deletions may contribute to short stature. The study found that uncommon genetic deletions are associated with short stature in human subjects.
A University of Iowa researcher is using a canine model to study the genetic basis of glaucoma. The goal is to identify potential genetic markers that could be used to diagnose and treat humans with the disease.
A new gene, LRP1, has been identified as the cause of fatal abdominal aortic aneurysms (AAAs). Researchers found that this gene is specific to AAA and not linked to other cardiovascular diseases. The discovery paves the way for new methods to treat AAAs.
Researchers found that boosting a gene in fruit flies' intestinal stem cells extended their lifespan by up to 50% and delayed the aging of their intestine. The study suggests that the gene, PGC-1, can act as a biological dial for slowing the aging process and may serve as a target for new therapies.
Researchers found a vast network of recent gene exchange connecting bacteria from around the world, exchanging 10,000 unique genes via horizontal gene transfer. This exchange is linked to human disease and antibiotic resistance, with 60% of transfers including antibiotic-resistance genes.
Researchers aim to generate antibodies against human proteins without animal testing, using bacterial and yeast libraries to identify active genes. This could lead to a better understanding of human disease and potential therapeutic targets.
A team at Northwestern University has developed a new method to identify thousands of protein molecules quickly, which could lead to the discovery of biomarkers and early disease detection. The approach, known as top-down proteomics, measures proteins intact instead of breaking them down into smaller parts.
Researchers chart gene expression in human brain from fetal development to aging, revealing coordinated changes that shape brain structure and function. The study found reversible gene expression changes after birth and during Alzheimer's disease, with distinct patterns of change at different life stages.
Researchers at Georgia Tech discover that genomic gaps in human and chimp genes are caused by viral-like sequences, leading to differences in gene expression and morphology. The study suggests that 'junk DNA' may hold the key to understanding why humans differ from chimps.
A study found that patients with certain genetic variants related to clopidogrel metabolism and platelet function are at higher risk of developing blood clots within coronary stents. The researchers identified three key genetic factors and two modifiable clinical factors that increase the risk of early stent thrombosis
Researchers at Virginia Tech have identified four US strains of the hepatitis E virus in farmed rabbits, closely related to genotype 3, which can spread from animals to humans. The discovery raises concerns about the potential for zoonotic transmission and food safety risks.
Researchers at 23andMe have identified the potential protective nature of the SGK1 gene against Parkinson's disease, particularly for individuals carrying high-risk LRRK2 mutations. This discovery has the potential to inform therapeutic approaches and diagnostics for Parkinson's disease.
Researchers found that morning UV exposure increases skin cancer risk by 500% compared to afternoon exposure. The study's findings imply that restricting sunbathing or tanning booth visits to morning hours could help prevent skin cancer in humans.
A new study by researchers at the University of Zurich has found that humans and great apes share a common evolutionary origin for their cultural behaviors. The research, which analyzed data from over 100,000 hours of orangutan behavior, suggests that genetic factors and environmental influences play a significant role in shaping behav...
Researchers have made significant progress in xenotransplantation using genetically modified pigs, showing promising results in pig islet and neuronal cell transplants. Clinical trials are underway or planned for these techniques, which could expand to include other organs such as the liver and heart.
A team of researchers has discovered a pervasive human RNA modification that contributes to obesity and type II diabetes. The study shows that this modification process, called methylation, impacts protein expression and function through its action on a common RNA base: adenosine.
Researchers identified a strategy of prevention that has evolved to compensate for the inefficiency of NMD by decreasing the frequency of nonsense errors. Human genes preferentially encode codons less likely to be mistranscribed into premature STOP codons, improving robustness to transcriptional errors.
A recent study has identified millions of new regulatory elements in the human genome, which govern protein formation and are crucial for various central functions. These findings have significant implications for understanding how mutations in genes lead to diseases.
Early humans' immune system responded strongly to Neu5Gc, a sugar molecule found on most animal cells. This response likely reduced reproductive success in males with high levels of Neu5Gc, driving the evolution of human ancestors.
A study reveals a vast world of unseen viral diversity in raw sewage, home to thousands of novel and undiscovered viruses. The research detected genetic signatures from 234 known viruses, but the majority belong to unknown viruses that may play roles in human health and environmental processes.
Perennial crops retain significant genetic variation, closer to their wild counterparts than annuals. Long-lived species have fewer sexual cycles due to clonal propagation, resulting in lower genetic change.
A study published in Nature Genetics reveals that genetic parasites invaded the mammalian genome over 100 million years ago and transformed reproductive biology. This led to the development of the placenta, which nurtures young within the womb.
Research suggests that periods of rapid temperature fluctuation coincided with the appearance of distant human relatives and the spread of stone tools. Genetic modelling techniques revealed a correlation between climatic variability and key events in human evolution.
A new study establishes a link between alcohol metabolism and DNA damage that may be related to breast and liver cancers. Acetaldehyde, a metabolite of alcohol, was found to cause DNA damage and trigger a response in human cells.
Researchers at the University of Strathclyde have developed a DNA test that can identify deer poachers by detecting low levels of human DNA on deer carcasses. The test has been shown to be effective in recovering DNA profiles from poached deer remains, with a success rate of less than one in a billion.
A team of researchers led by Michael Hammer found evidence of hybridization between modern humans and archaic forms in Africa. Contemporary African populations contain small proportions of genetic material brought in by an archaic population that split from the ancestors of anatomically modern humans about 700,000 years ago.
Researchers at Columbia University Medical Center have discovered that two genes, FUS/TLS and TDP-43, work together to support motor neuron survival in familial ALS. The findings, published in the Journal of Clinical Investigation, suggest that therapies targeting these genes may offer new hope for treating familial ALS.
Researchers at Ben-Gurion University have identified the LEPREL1 gene as causing myopia by affecting collagen modification in the eyes. This discovery may lead to better understanding and prevention of nearsightedness.
Researchers found that interbreeding with archaic humans introduced beneficial variants of immune system genes, such as HLA-B*73, into modern human populations. These gene variants are now more common in West Asian and East Asian populations, where they provide an advantage to modern human fitness.
Researchers have determined the three-dimensional structure of a complex between an influenza B virus protein and its human protein target, resulting in suppression of the cell's natural defenses. This discovery could lead to the development of antiviral drugs against influenza B virus.
Maurice Godfrey received a $10,000 grant from ASHG to develop an electronic version of a successful print-based educational game teaching about genetics, medicine, and ethics. The project aims to improve genetics education for students from grades 7-20.
Researchers found that human embryonic stem cell-derived cells bear striking differences from human tissue cells in gene expression, functionality, and appearance. The cells' developmental maturity is also a concern, particularly for transplantation and disease modeling, as they may not mature to the same levels as adult cells.
A new strain of bacteria infecting humans with ehrlichiosis has been found in Wisconsin and Minnesota, according to a study published in the New England Journal of Medicine. The discovery highlights the importance of testing for tick-borne diseases in these states.
Researchers reveal that MLL-AF9 hijacks Myb to enforce aberrant self-renewal in leukemia cells. Inhibiting Myb results in rapid and complete eradication of cancer, validating a new approach for targeting oncogene addiction in vivo.
Researchers found that humans experience significant brain shrinkage and degeneration with aging, unlike chimpanzees who do not display comparable losses. The study suggests evolution led to large brains in humans, but also increased vulnerability to age-related brain diseases like Alzheimer's.
A recent genetic study found that centuries of human activity, including trade and rituals, have mixed the genetic lineages of the critically endangered Central American river turtle. The turtles' shells made them easy to transport, allowing them to be brought together from isolated river basins.
A study by UC Davis researchers found that a significant proportion of men carry defective genes for the sperm coat protein DEFB126, which may significantly affect their fertility. The protein plays a crucial role in allowing sperm to swim through mucus and avoid the immune system.
A new framework for the evolutionary analysis of the mind proposes that humans cannot be accurately portrayed as being adapted only to a Stone Age environment due to recent selection of genes. Experimental evidence suggests that humans utilize general learning rules rather than a modular account of cognition.