Articles tagged with Human Genetics
Researchers reconstruct 3D image of group II introns to uncover large-scale molecular movement associated with RNA catalysis. This discovery provides key insights into the evolutionary origins of RNA splicing and its impact on human disease.
A novel antibody-enzyme fusion has virtually eliminated Lafora bodies in LD mouse brains, restoring normal brain metabolism. The therapy has potential treatment applications beyond Lafora Disease, including other glycogen storage diseases.
New human artificial chromosomes (HACs) have been developed to overcome the limitations of previous versions by removing repetitive elements and utilizing epigenetic markers. These advancements enable more thorough studies of chromosome function and open doors to complex synthetic biological systems.
Geneticist Hal Dietz receives ASHG Mentorship Award for his sustained pattern of exemplary mentorship. Dr. Dietz has mentored over 50 successful mentees, many of whom have received prestigious awards and independent funding.
A new study published in European Journal of Human Genetics reveals that the left-handed Z-DNA conformation plays a key role in regulating type I interferon responses, which are involved in fighting viruses and cancer. The study analyzes families with variants in the ADAR gene and confirms a biological function for the left-handed conf...
Researchers discovered genome-wide variations in gene expression between females and males in mammalian species. The study revealed hundreds of conserved sex-biased gene expressions contributing to differences in traits.
A new study has identified 40 crucial genes in Cryptococcus that impact human disease outcomes, offering a potential breakthrough in treatment. The findings could lead to personalized medicine approaches and reduced reliance on toxic antifungals.
Researchers analyzed blood samples from 21 animals to identify biomarkers for diseases like lung tumors and Alzheimer's. These biomarkers are evolutionarily conserved, meaning they occur in humans and other species with similar function.
Researchers found evidence of interbreeding between modern humans and Neandertals, Denisovans, and two unnamed archaic groups in Island Southeast Asia and East Asia. The ancestors of modern humans mixed with these groups before they became extinct.
New research reveals that epigenetic changes in humans and zebrafish, a tiny fish species, are conserved for over 400 million years. The study found that genes linked to cancer development are silenced early in human embryos, similar to zebrafish, suggesting an ancient mechanism controlling these genes.
Mosquitoes have evolved to specialize in humans, recognizing distinct human odors through a complex blend of compounds. Researchers study the behavior, genetics, and brain structure of disease-carrying mosquitoes to understand this specialization.
Researchers discovered that millet farmers from northern China introduced cold-tolerant barley to the plateau around 3600 years ago. This genetic legacy has contributed significantly to the current genetic landscape of Tibetans.
Researchers analyzed data from four years of Q&A sessions at academic conferences and found that men asked most questions, even in a majority-woman audience. The study suggests that public discussion and policy changes focused on gender equity can make a significant difference.
Research suggests that humans have lost the ability to shunt fat cells toward beige or brown fat, leading to an increased reliance on calorie-storing white fat. This shift may have provided an energy advantage for human brain growth, but also contributes to modern obesity.
A large-scale study reveals fundamental gene activity networks controlling organ development in mammals, with original patterns dating back over 200 million years. The researchers also identified a surprising number of RNA genes involved in organ development.
Researchers recommend moving away from animal models to in vitro and in silico studies using human-mimetic tools for studying deadly mosquito-borne flaviviruses. The emerging technologies will help predict human pathogenesis and drug efficacy, and improve clinical solutions.
A team of scientists is using single-cell sequencing to map the diversity of cells in the human heart, aiming to understand how different cell types contribute to its function. The research, part of the Human Cell Atlas initiative, aims to provide a reference for future studies on heart diseases.
Researchers analyzed paper mulberry genetic samples to study prehistoric human movements in Oceania. The analysis revealed a clear genetic structure and dispersion patterns that match archaeological and linguistic data, providing insights into past human interactions and population dispersal.
A study published in Annals of Neurology suggests that serotonin may play a role in heightened somatic awareness, a condition characterized by unexplained physical symptoms. Patients with this condition are more likely to develop chronic pain and have lower levels of serotonin in their blood.
The IADR/AADR Journal of Dental Research has announced the winner of its Cover of the Year Award, 2018 for a study on Schwann cell phenotypes in aging human dental pulp. The award recognizes an aesthetically pleasing and scientifically novel image that enhances the impact of the article.
A team of scientists discovered a new group of people who lived in north eastern Siberia during the last Ice Age. The Ancient North Siberians had a mosaic genetic make-up and were closely related to both Europeans and Asians.
A gene mutation that became more common in humans after cooking and farming emerged as a potential adaptation to modern high-carb diets. The variant is associated with improved blood sugar regulation and may have helped ancient humans manage food scarcity.
Researchers at the University of Toronto have found dozens of genes unique to humans that code for transcription factors controlling gene activity. These genes recognize diverse DNA motifs, regulating different genes and potentially driving species differences between humans and chimps.
Researchers discovered that ribosomes in human cells destroy healthy mRNAs, affecting protein production and regulating gene expression. This discovery may lead to a better understanding of gene misregulation in human diseases.
Scientists at Cornell University have developed a new, genetically clean strain of the C. elegans worm, which will serve as a standardized baseline for future research studies. The new genome sequence reveals hidden genetic variations and highlights the need for accurate DNA sequencing in synthetic biology.
Researchers discovered a receptor on human cells that detects metabolites from fermented food bacteria, triggering immune cell movement. Consuming lactic acid bacteria may provide anti-inflammatory effects and serve as a potential drug target for inflammatory diseases.
Scientists at the University of Sheffield discovered how genes create proteins based on mRNA instructions, helping understanding of cancers and conditions like motor neuron disease. The process, similar across many living organisms, could aid development of treatments for human diseases.
Researchers discovered that bedbugs have been parasitic companions with other species aside from humans for more than 100 million years. The team found that bedbugs are 50 million years older than bats and were already specialized on a single host type, even though the host was unknown at the time of T. rex.
Researchers discover a natural compound in broccoli that can reactivate the function of PTEN, a potent tumor suppressor gene frequently mutated or deleted in human cancers. The compound, indole-3-carbinol (I3C), was found to inhibit WWP1, an enzyme that inactivates PTEN's tumor-suppressing activity.
Researchers discovered oldest Scandinavian human DNA in ancient chewing gums, providing a link between material culture and genetics. The study sheds light on the genetic composition of early Mesolithic populations from Scandinavia.
A new study on 46 mammal species reveals how the pursuit of starch drove evolutionary adaptations in animals. Mammals with starchy diets tend to have more copies of the amylase gene, which carries instructions for building amylase.
Researchers at Yale University have identified low humidity as a key factor in increasing flu virus transmission and severity. The study found that low humidity impairs the immune response, preventing cilia from removing viral particles and reducing airway cells' ability to repair damage.
A Rutgers discovery identified a siesta-suppressing gene in fruit flies that helps creatures balance the benefits of napping against getting important activities done during the day. The 'daywake' gene regulates behavioral flexibility, allowing flies to seek food or mates when temperatures are cool.
The Gulf killifish has developed adaptive resistance to pollutants in Galveston Bay, Texas, through hybridization with the Atlantic Killifish. This genetic exchange has enabled the species to persist in polluted waters, highlighting the role of inter-species connectivity in adaptation to environmental changes.
A team of researchers has identified the first gene associated with LUTO, a rare condition causing urinary tract obstruction in boys. The study found that variants of the BNC2 gene are linked to the disease, which can lead to kidney damage and other complications.
A team of researchers analyzed the DNA of nine 13th-century Crusaders, revealing a genetically diverse group that intermixed with local populations. The findings provide insights into the history of the Crusades and highlight the importance of ancient DNA in understanding historical events.
Researchers found cold-resistant phenotypes in Alaskan Iñupiat and immune response genes in central Mexican and southeastern US populations. Genetic adaptations varied depending on population history and geography.
Researchers discover SRC-1 gene variants disrupt body weight regulation in mice and humans, highlighting the protein's key role in the hypothalamus. Genetic variants identified in severely obese children contribute to poor body weight control.
A team of biologists has discovered new rules governing cell decision-making in genetics, revealing how genes are activated under specific conditions. The study found that a protein called Zelda strengthens Dorsal activity, allowing cells to make decisions about gene activation based on their environment.
A new CRISPR-Cas3 system allows for efficient genome editing in human cells, erasing long stretches of DNA from targeted sites. This technology holds promise for treating viral diseases such as herpes simplex and hepatitis B, which are major public health threats.
A genetic study of an outbreak of Enterococcus faecalis revealed how the organism became resistant to new antibiotics and adapted to infect human blood. The research identified multiple mutations that enabled the bacteria to resist host immune systems and antibiotics.
The Human Genetics Scholars Initiative aims to increase workforce diversity in human genetics research by providing intensive mentoring, skill-building, and community-building opportunities. The program will support up to 240 diverse young researchers over five years.
A new CRISPR-Cas3 tool has been developed for long-range DNA editing in human cells, allowing scientists to target and delete large expanses of DNA. This technique harnesses a different type of CRISPR system than the widely used Cas9 tools, enabling precise control over DNA degradation.
A new online tool allows researchers to determine the genetic ancestral origin of over 1300 cancer cell lines, revealing a lack of representation from diverse populations. The study found that European and East Asian origins were overrepresented, while African American and Hispanic/Latino origins were underrepresented.
A recent study in Molecular Biology and Evolution reconstructed artificial genomes with the analyses of 565 contemporary South Asian individuals to extract ancient DNA signals. The researchers found valuable genetic components that allow them to elucidate the genetic composition of ancient populations in the region. Additionally, they ...
Scientists have developed a kinder gentler way to deliver big molecules like Cas9 enzyme into cells, improving efficiency and safety. The new technique, nanopore-electroporation, creates fewer than a dozen tiny holes in each cell, allowing for more effective gene editing and delivery of therapeutic proteins.
The bias in human genomics research limits understanding of health and disease, and the ability to make accurate predictions and develop new treatments. The authors call for increased diversity in studies to address health inequalities and mistrust
Researchers at the University of Liverpool have found that chromatin changes quickly in response to low oxygen, preceding gene expression activation. This discovery sheds light on how cells respond to oxygen deprivation and may pave the way for novel therapeutic approaches.
The NIH supports an international moratorium on clinical germline editing due to safety, ethical, and philosophical concerns. The call comes after irresponsible research in China, where twins were born with altered DNA before implantation.
Researchers have identified an association between a MUC5B gene variant and systemic vasculitis, a lung disease prevalent in the Japanese population. The study found that patients with antineutrophil cytoplasmic antibody-associated vasculitis are more likely to have ILD if they carry this specific genetic variation.
Researchers from the University of Rochester discover that LINE1 retrotransposons become more active with age, triggering inflammation and age-related diseases. By understanding the impacts of these genomic parasites, scientists can develop strategies to inhibit them and combat aging.
Researchers at the Marine Biological Laboratory (MBL) have identified key genes that promote spinal cord regeneration in axolotls. By activating these genes, scientists were able to force human cells to undergo regeneration, highlighting similarities between species.
A comprehensive analysis of 14 IBD patient groups and 1,800 intestinal biopsies pinpointed a key genetic component linked to more severe cases. The protein PAI-1 was found to exacerbate colon inflammation by targeting tPA, which protected against injury in mice
A new study confirms dingoes are a distinct species in Australia, with specific characteristics that differentiate them from domestic dogs and other wild canids. The finding highlights the importance of preserving dingo populations for their ecological role in managing invasive predators.
Researchers at Shinshu University found that a gene influencing snail shell coil direction also plays a key role in snail evolution, potentially leading to the creation of new species. The study reveals that genetic expression levels can determine handedness in snails, with reduced expression resulting in reversed handedness.
The completed genome of the Antarctic blackfin icefish reveals genes that have adapted or disappeared as the fish acclimated to rising oxygen concentrations. The study provides insights into how these traits arose and may help understand human disease mechanisms and potential new therapies.
Researchers have developed a neuron-optimized CRISPR activation system that efficiently regulates genes involved in learning and memory, plasticity, and neuronal development. This breakthrough paves the way for studying genetic influences on brain health and disease using model organisms more closely resembling humans.
Researchers discovered a link between Escherichia coli and colorectal cancer risk through colibactin, a genotoxic warhead that damages DNA. The study identified potential biomarkers for assessing colorectal cancer risk and provides significant mechanistic insights into the carcinogenic activities of colibactin.
Researchers reconstructed the phylogenetic tree of six African baboon species, revealing that genes were exchanged between species, leading to new species emergence. This study sheds light on fundamental biological processes producing new species and provides an analogous model for understanding human evolutionary history.
A 34,950-33,900 year old skull from Mongolia has been identified as the oldest known modern human in the region. The ancient skull's presence confirms its link to the Early Upper Palaeolithic industry, which is typically associated with modern humans.