Articles tagged with Human Genetics
Researchers have identified a mutation in the ADAMTS20 gene as being associated with cleft lip and cleft palate in both humans and dogs. This discovery has potential implications for understanding and treating these birth defects, which can affect varying degrees of severity in affected individuals.
A recent study found that a region of the genome associated with autism contains genetic variation that evolved in the last 250,000 years, likely playing an important role in disease. This variation is characterized by segments of DNA being deleted or duplicated, a common cause of autism and other conditions.
The sequencing of the house fly genome has identified unique detoxification and immune system genes that could aid in understanding human disease susceptibility. By studying these genes, scientists hope to develop treatments or vaccines for diseases transmitted by flies, such as typhoid and trachoma.
Researchers have identified a novel gene, MGST3, that regulates hippocampus size in both mice and humans, linked to neurodegenerative diseases like Alzheimer's. The discovery provides another biomarker for identifying those at greatest risk of developing the condition.
Scientists have compiled a treasure trove of 146 ancient and modern human full mitochondrial genomes to improve the accuracy of molecular clocks in human evolution. The new data reveals that a molecular clock calibrated with ancient sequences is far more accurate than traditional ones based on archaeological evidence.
A study led by Professor Kui Liu has identified the Greatwall kinase molecule as a key protector of women's eggs against problems during maturation. The molecule is crucial for completing meiotic divisions and preventing infertility issues in up to 15% of women.
Researchers have characterized the dog's epigenome and transferred the results to human breast cancer, revealing significant alterations in gene modulation and common epigenetic mechanisms. The findings suggest that targeting these epigenetic alterations may help slow disease progression.
A multi-function protein called Sirt6 plays a crucial role in keeping 'jumping genes' inactive. The protein becomes busier repairing DNA damage with age, allowing the genes to become active and contribute to age-related diseases like cancer. Increasing Sirt6 levels may help protect older cells from aging.
A new gene, Tpcn2, has been discovered as a key player in the development of diabetes. Variants in this gene have been associated with fasting glucose levels and insulin response in animal models, as well as human populations.
Michigan State University scientists have discovered the first detailed examination of mutations similar to those present in the human cancer gene. The study reveals that boosting levels of even standard protein can alter fruit flies' eyes and wings, while mutated protein causes consistent and dramatic deformations.
A new study by University of California, Berkeley scientists found that human facial traits are more variable than other bodily traits and show higher levels of genetic variation. This is consistent with the idea that evolution has favored uniqueness in facial features to enhance recognition and social interaction.
Researchers found pseudouridylation of mRNA in yeast and humans, increasing mRNA stability under heat shock conditions. This discovery has significant implications for understanding human diseases associated with PUS gene mutations.
Researchers found that bexarotene reduces amyloid-beta levels in late-stage Alzheimer's mice but increases them in early stages. This study suggests a personalized treatment approach for APOE4 carriers, who may benefit from short-term treatment in later disease stages.
Researchers found that the human version of the Foxp2 gene helps transform new experiences into routine procedures, enabling faster learning and better habit formation. The gene's protein, a transcription factor, regulates synaptic connections between neurons, allowing for more efficient learning and language acquisition.
Researchers at UCSF identified an antibiotic, lactocillin, produced by a common vaginal bacterial species that kills certain pathogens while sparing others. The study suggests that naturally occurring drugs made by our own microbes may play an important role in maintaining human health.
Researchers have discovered a pathological process that affects both mice and humans with type 2 diabetes. By analyzing genome, phenome, proteome, and metabolome data, they identified a specific gene on chromosome 2 that plays a crucial role in the development of the disease.
The gibbon genome sequencing project provides new insights into chromosomal rearrangements, evolutionary history, and genetic factors in human health. The study sheds light on the complex evolution of gibbons and their role in understanding human diseases.
Researchers discovered that a single-celled organism, Oxytricha trifallax, can break its DNA into nearly quarter-million pieces and reassemble them in 60 hours for mating. This ability highlights the complexity of life on Earth, with intricate mechanisms to reconstruct chromosomes.
A comprehensive DNA study reveals that the Paleo-Eskimos were a single group of people who migrated to the Arctic from Siberia around 5,000 years ago, surviving in near-isolation for over 4,000 years. Their culture developed into three discrete cultural units: Inuit, Native Americans, and Thule culture.
The FASEB MARC Program has announced the recipients of its travel awards for the 2014 American Society of Human Genetics meeting. The program aims to increase diversity in biomedical research, and this year's awardees represent a total of $29,600.
A Yale-led analysis of genomic data reveals shared molecular toolkits in flies, worms, and humans, with comparable numbers of functioning genes and coordinated gene expression patterns. However, pseudogene regions show stark differences reflecting divergent evolutionary histories.
A recent study has identified key sets of co-expressed genes essential for animal cells, regardless of species. The researchers used RNA-seq data from multiple tissues and developmental conditions to create a map of highly important genome regions.
A team of researchers from Arizona State University has discovered the genetic 'recipe' for lizard tail regeneration, which involves turning on at least 326 genes in specific regions. This finding may lead to the development of new therapeutic approaches for spinal cord injuries and birth defects.
Researchers used mathematical models and genetic analysis to discover that cooperative bacteria are better equipped to adapt to environments, increasing their ability to infect multiple species. This knowledge could help predict and manage health threats from animal-borne diseases.
A study published in Global Heart explores the prevalence of atherosclerosis across ancient populations, revealing that genetic susceptibility is present in all cultures. Environmental factors such as diet, lifestyle, and physical activity play a crucial role in determining when and how quickly atherosclerosis develops.
Recent studies have shown that clustered DNA mutations are common in cancer development and may result from the process of DNA repair. The discovery provides a mechanism to potentially explain how genetic changes form in human cancers.
A study analyzing the iceman mummy suggests that genetic predisposition is a significant risk factor for atherosclerosis, even in ancient times. The iceman's genome revealed specific genetic mutations linked to cardiovascular disease, contradicting the idea that our ancestors lived healthier lives.
Researchers found that only 8.2% of human DNA has a clear function, with most being 'junk' DNA. This figure challenges the previous claim of 80% functional DNA, highlighting the need for a more precise definition of 'function'.
Whitehead Institute researchers have discovered a way to manipulate and maintain human ESCs in a "naïve" or base pluripotent state without reprogramming factors. This breakthrough has the potential to revolutionize human ESC research and may lead to new treatments for diseases.
A team of researchers has identified 46 genes in Escherichia coli necessary for its survival at high levels of radiation, including DNA repair pathways. The discovery reveals potential new ways to protect humans from cancer and improve our understanding of ionizing radiation effects.
Researchers found that bexarotene reduces levels of neurotoxic protein amyloid-beta in mice with late-stage Alzheimer's, but increases it during early stages. This suggests that treatment timing and duration may be crucial for effectiveness.
Wisconsin scientists have identified two genetic programs that can turn blank-slate stem cells into red and white blood cells. The discovery gives scientists the tools to make blood products, investigate cell development and production of clinically relevant blood products.
A Georgia State University research study found that chimpanzee intelligence is largely determined by genes, while environmental factors may play a lesser role. The study's findings suggest that genes significantly influence cognitive abilities in chimpanzees, with some similarities to the structure of human intelligence.
A 100,000-year-old archaic early human skull found in Northern China reveals a surprising presence of an inner-ear formation long thought to occur only in Neandertals. This discovery challenges current scenarios of later Pleistocene human population dispersals and interconnections.
A CNIO team updates the number of human protein-coding genes to 19,000, with almost all having ancestors prior to primate evolution. The study suggests that differences between humans and primates are small, and complexity lies in gene regulation and non-coding regions.
Scientists have discovered that Tibetans inherited a gene from their extinct human cousin, the Denisovans, which helps them adapt to high-altitude plateaus with low oxygen levels. This variant of the EPAS1 gene allows Tibetans to survive at elevations above 15,000 feet without cardiovascular problems.
Researchers at Columbia University Irving Medical Center have successfully retrained human gastrointestinal cells to produce insulin in response to glucose. This breakthrough could potentially replace damaged cells lost in type 1 diabetes, offering a new avenue for treating the condition.
Researchers have identified two genes that may help prevent muscle wastage in humans: survivin and checkpoint kinase 1. These genes are highly active in burrowing frogs that survive dormancy without suffering significant muscle damage.
By analyzing somatic mutations in healthy cells, researchers can reconstruct a cell's development from the early embryo to adulthood. This approach provides insight into normal cell development and could help understand how it differs from cancerous cells.
A global study has successfully mapped the genes of a parasitic worm in pigs, which could lead to new treatments for inflammatory bowel disease, rheumatoid arthritis, multiple sclerosis, and autism. The genetic sequence of the 'pig whipworm' provides insights into its interaction with human immune systems.
A study published in Science found that father's age has a stronger impact on mutation rates in chimpanzees compared to humans, with 90% of new mutations originating from fathers.
A new study from Uppsala University found that elderly carriers of the FTO gene have higher ghrelin levels and lower leptin levels, making them more prone to weight gain. The study suggests that this genetic variant may facilitate weight gain by shifting the endocrine balance towards hunger hormone ghrelin.
Researchers found that human herpes simplex virus (HSV) -1 and -2 originated in chimpanzees, with HSV-1 present in humans for over 6 million years. The study suggests that HSV-2 emerged from ancient chimps around 1.6 million years ago, prior to the rise of modern humans.
Researchers have identified a specific DNA stretch controlling genes that determine face structure and those producing building materials. The region's regulatory elements affect gene Myc activity, leading to facial changes and increased susceptibility to environmental factors like smoking during pregnancy.
The discovery of Naia, a 12,000- to 13,000-year-old teenage girl's skeleton, provides conclusive evidence of a genetic connection between ancient Paleoamericans and modern Native Americans. The remains were found in an underwater cave in Mexico and contain an intact cranium, teeth, and DNA from an Asian-derived lineage.
Researchers found four genes in trypanosome parasites that make them sensitive or resistant to the human immune system. The study identified a previously unknown gene that codes for a transmembrane channel, which may be involved in the uptake of human defense factors by the parasite.
A study published in mBio reveals that humans and companion animals share the same types of MRSA infections, indicating a common population of bacteria. The research suggests that antibiotic usage in animal medicine is shaping the human pathogen, and healthy pets are not likely to pick up MRSA from their human companions.
A new study by University of South Carolina anthropologist Sharon DeWitte provides insights into how the plague shaped population demographics and health for generations. The findings suggest that survivors of the Black Death experienced improvements in health and longevity, with many people living to ages of 70 or 80 years.
Researchers discovered genetic variation influencing immune cell function is linked to increased risk of neurodegenerative diseases like Alzheimer's. The study found a striking enrichment of functional effects in monocytes for these variants, highlighting the potential role of immune system cells in human disease pathology.
A study published in Nature Communications found that a mother's diet before conception can permanently affect how her child's genes function. Researchers analyzed blood and hair samples from infants born to mothers who conceived during rainy or dry seasons, revealing higher rates of methyl groups linked to nutrient levels and BMI.
Researchers demonstrate that transplanting hearts from genetically engineered pigs in combination with target-specific immunosuppression prolongs graft survival in baboons, paving the way for human transplantation. The study shows promise for overcoming immunologic roadblocks and eliminating the shortage of donor organs.
A study has identified a dozen genetic mutations involved in changes to complete blood counts and the onset of severe biological disorders. The research used DNA from 6,796 people and found mutations in genes related to red and white blood cells and platelets.
Researchers have sequenced the tsetse fly genome, revealing genetic adaptations that enable it to transmit diseases such as sleeping sickness and Nagana. The study provides a valuable resource for developing prevention strategies to reduce deaths and illness associated with these diseases.
Researchers have developed a new mouse model that accurately replicates the progression of Alzheimer's disease in humans. The models are characterized by early accumulation of Abeta peptides and cognitive dysfunction similar to human patients.
University of Montreal scientists discovered how Epstein Barr (EBV) virus takes over gene regulating machinery to replicate itself. The viruses trick the human defense systems by mimicking components, allowing them to survive and cause diseases like infectious mononucleosis and lymphoma.
A new genome analysis method has confirmed that humans and Neandertals interbred in Eurasia, providing a definitive answer to the long-standing debate about the origin of modern humans. The study's findings suggest that Neandertal admixture occurred after modern humans migrated out of Africa.
UC Davis researchers have identified a genetic mutation responsible for cleft palate in Nova Scotia Duck Tolling Retrievers, providing a new model for studying the craniofacial defect. This discovery may lead to a better understanding of cleft palate in humans and its associated complications.
Researchers found that European humans have a higher number of Neanderthal variants in genes related to lipid breakdown, which may have provided a selective advantage. This study suggests that Neanderthal ancestry has driven evolutionary changes in lipid processing and brain composition among Europeans.
A mathematical model explains how high-rank individuals in hierarchical groups engage in seemingly altruistic behavior by competing with peers in other groups, leading to increased total group effort towards conflict. This behavior is linked to within-group hierarchy and inequality, observed in nature across various species.
A comprehensive atlas of human gene activity has been released, revealing complex networks that govern gene expression. The new findings could lead to a better understanding of the genetic causes of diseases and improve disease diagnosis.