Articles tagged with Human Genetics
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 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.
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.
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.
Cancer biologists have pinpointed a gene that drives progression of small cell lung cancer, an aggressive form of lung cancer. Researchers found the gene to be overexpressed in both mouse and human lung tumors.
Researchers identified a pathogenic mutation in the VPS35 gene associated with late-onset Parkinson's disease, implicating a novel protein-recycling pathway in neurodegeneration. The study provides new insights into the disease's pathogenesis and highlights the potential for therapeutic intervention.
Researchers developed a new technique to analyze whole genomes from different populations, revealing continued genetic exchange between African and non-African populations after 60,000 years ago. The study provides fresh insights into human history from 10,000 to one million years ago.
Scientists have created a new approach for producing large quantities of human-derived gelatin, potentially replacing up to 300,000 tons of animal-based gelatin. The novel method involves inserting human gelatin genes into yeast, allowing for controllable features and scalability for commercial use.
Researchers found that genetically identical trees grew differently in response to drought conditions depending on their nursery origin. This study reveals a form of molecular 'memory' where trees retain information about their past experiences, influencing their behavior in the environment.
Researchers found that de novo mutations, genetic errors present in patients but not their parents, are more common in schizophrenic patients. This discovery may help define how the disease results from these mutations and develop new treatments.
Researchers found that pigeons can recognize individual people using facial characteristics, even when wearing different clothing. This ability is likely an adaptation to their long association with humans, enabling them to distinguish between individuals.
Researchers discovered a compound in cinnamon bark that can inhibit the development of Alzheimer's disease. The extract, called CEppt, slows down the progression of the disease and breaks up toxic amyloid fibers in the brain.
Researchers discovered two distinct populations of coconuts, indicating separate cultivation origins in the Pacific and Indian Ocean basins. The study also found evidence of prehistoric trade routes and the colonization of the Americas through coconut genetics.
Researchers have successfully produced synthetic collagen in maize with similar levels of proline hydroxylation to human collagen. This breakthrough enables the production of a protein with human-like modifications, making it suitable for various applications in reconstructive and cosmetic surgery, as well as the food industry.
Researchers found that about three percent of new mutations are 'multi-nucleotide mutations,' which may allow organisms to leap across fitness valleys and reach a higher-fitness state by acquiring multiple mutations simultaneously. The study provides evidence for a possible new mechanism of adaptation.
A human genetic variant associated with a 30% reduced risk of developing severe malaria has been identified. The FAS locus variant can prevent excessive immune responses in infected children, reducing the severity of the disease.
A 'gatekeeper' protein called C/EBP alpha plays a crucial role in preventing DNA damage and skin cancer. Its absence is linked to human skin cancers, including breast and colon cancer, and may also play a role in tumor suppression.
Researchers have identified a stem cell population that can reverse nerve cell loss in individuals with Parkinson disease. Protein-based human induced pluripotent stem (iPS) cells were found to efficiently generate functional dopamine neurons and treat a rat model of the disease. These findings suggest a potential new treatment approac...
Researchers discover CENP-C and CENP-T proteins, which are essential for kinetochore assembly and can potentially overcome the current obstacle of outfitting artificial chromosomes with kinetochores. This finding could lead to new genetic research tools and efficient creation of artificial human chromosomes.
Researchers discovered a worm protein controlling growth factor secretion, which is linked to human cancers. The study proposes that abnormal growth factor secretion may stimulate cancer formation and offers a potential targeted treatment approach.
Scientists at the University of Gothenburg have discovered how certain sea squirts can activate telomerase, an enzyme that protects DNA, leading to exceptional health. These organisms also have a unique ability to discard 'junk' from their cells, which helps maintain their youthful state.
Researchers found that variations in the follicle stimulating hormone receptor (FSHR) gene may increase a woman's risk for delivering her infant prematurely. The study suggests that human gestation has been pushed to shorter times due to evolutionary changes, which could lead to new targets for therapeutic or preventive measures.
A new study has identified a molecular switch, TBL1, that appears to be a common feature in the development of fatty liver disease. The discovery is consistent with data from human patients and suggests an underlying explanation for the condition.
Researchers successfully reprogrammed diseased human hepatocytes into induced pluripotent stem cells, offering a potentially unlimited source for liver disease treatment. This breakthrough could enable the generation of genetically corrected liver cells via auto-transplantation, avoiding liver transplants and immunosuppression.
Michael Elowitz was awarded the 2011 HFSP Nakasone Award for his groundbreaking research on genetic noise, a concept that has transformed our understanding of cellular behavior. His work has shown that noise is not just a random variation but an essential element that enables core cellular functions.
Researchers identified 510 genetic regions highly conserved among chimpanzees and other mammals but missing in humans. These deletions are linked to specific anatomical changes unique to the human lineage, including reduced tactile sensitivity and increased brain size.
Researchers at Boston University School of Medicine have identified a novel mechanism for controlling gene expression, which is evolutionarily conserved in humans. This process, called transcriptional attenuation, involves the blocking of premature termination complexes to allow genes to be expressed under certain stress conditions.
A WSU study aims to uncover the role of RNAi in X chromosome recognition, which could improve our understanding of gene regulation in humans and lead to new medical interventions for diseases like cancer and developmental abnormalities.
A new genetic discovery suggests that the loss of function in a human-specific gene called CMAH may contribute to the development of Type 2 diabetes. The study found that mice with this gene mutation developed insulin resistance and pancreatic beta cell failure, leading to decreased insulin production and impaired blood glucose control.
Researchers found that humans can't produce a specific sialic acid molecule, leading to insulin and glucose metabolism problems. This discovery suggests evolutionary changes may have influenced human metabolism and increased diabetes risk.
Researchers used fruit flies to study fetal alcohol syndrome, finding that prenatal alcohol exposure can cause developmental problems such as intellectual disabilities and abnormal facial features. The study establishes a new model system for studying FAS, which may lead to the development of new therapies.
The freshwater crustacean Daphnia pulex has been found to have the most genes in an animal, with approximately 31,000 genes. This discovery was made possible by the sequencing of its genome and provides unprecedented insights into how an organism's genome interacts with its environment.
A new genetic study has found that the DNA of current Polynesians can be traced back to migrants from the Asian mainland who settled in islands close to New Guinea around 6,000 years ago. The research challenges previous theories on human migration, suggesting a 'voyaging corridor' between Southeast Asia and the Pacific