Articles tagged with Human Genetics
Researchers at Tel Aviv University reconstructed the nutrition of stone age humans, finding they were specialized carnivores with a high-fat diet. The study used multiple lines of evidence, including genetics, metabolism, and archaeology, to conclude that humans evolved as apex predators for two million years.
A recent study published in PLOS Genetics has identified six genetic variants that add up to determine the risk of several blood cancers in pre-disposed dog breeds. The study found that dogs carrying five or more of these mutations had a very high risk of developing blood cancer during their lifetime.
The study proposes an alternative model where the effects of sex, genes, and environment are multiplied, not added, to account for complex interactions. This reveals consistent differences in average heights across countries and sexes.
Researchers found no evidence of interbreeding between modern humans and Denisovans in Island Southeast Asia, but confirmed high levels of Denisovan ancestry in the region. The study suggests that significant genetic exchange occurred between Denisovans and modern humans who arrived in Asia 50,000-60,000 years ago.
A large-scale genetic study has identified 50 new genes associated with human eye color, significantly expanding the current understanding of this complex trait. These findings will help improve diagnosis and treatment of eye diseases such as pigmentary glaucoma and ocular albinism.
A recent study found that chimpanzees have been reconnected for extended periods during the most recent maximal expansion of African forests, contrary to previous assumptions. The team's comprehensive sampling and use of rapidly-evolving genetic markers revealed genetic connectivity mirrors geographic distance and local factors.
Researchers have mapped 300 proteins that regulate cell division, a crucial step in cancer development, offering hope for tailored cancer treatments. The study provides new insights into cell-to-cell variation and the human cell cycle, with the data now available in the Human Protein Atlas.
A new study found that kittens with aEPEC bacteria can help understand the disease, and the researchers identified behavioral differences between healthy and sick kittens. The findings point to kittens as a potentially invaluable model for further exploration of aEPEC.
HSE researchers discovered a link between genetic predisposition and severe COVID-19 using machine learning models. The study found that individuals with effective T-cell immunity had lower risk scores, while those with weaker immunity scored higher.
Researchers successfully extracted DNA from marine shells, revealing insights into the genetics of animal shrinking. The technique sheds light on how animals like lemurs and lizards adapt to human hunting pressure.
A study found that the HAND2 gene becomes less active in humans as labor nears, suggesting it may play a role in regulating gestation length. The gene evolved to be turned on in uterine linings of placental mammals during pregnancy.
A team of researchers used a machine-learning approach to map the genetic and environmental connectivity of Aedes aegypti mosquitoes, a primary vector for diseases such as dengue fever and Zika. The study provides insights into the mosquito's adaptability to new landscapes and expanding range.
Researchers found that individuals without α-actinin-3 in their muscle fiber protein have slower-twitch muscle fibers, which provide better tolerance to low temperatures and energy efficiency. This mutation likely provided an evolutionary advantage in colder climates but may increase disease risk in modern society.
Researchers used CRISPR-Cas9 technology to introduce Neanderthal NOVA1 gene variants into human stem cells, generating brain organoids with altered neurodevelopment. The results showed slower development and increased surface complexity in the organoids.
A new, more complete dog reference genome has been built using DNA sequencing and annotation techniques. The improved genome will aid in understanding the link between DNA and disease in dogs and their human counterparts.
Experts review current understanding of modern human ancestry tracing back to the distant past, identifying three key phases in human evolution. The study suggests that no specific point in time can be identified when modern human ancestry was confined to a limited birthplace.
Analysis of human teeth from caves in southern China suggests that anatomically modern humans migrated from Africa around 65,000 to 45,000 years ago, contradicting earlier proposals of an early arrival. The study's findings highlight the importance of direct DNA analysis and carbon-14 dating for accurately estimating human remains' age.
A high-resolution 3D chromatin structure map of the macaque fetal brain has been constructed, revealing human-specific chromatin structural changes. These changes include 499 human-specific TADs and 1266 human-specific loops, which are enriched with enhancer-enhancer interactions.
A study published in eLife reveals that humans living in Cabo Verde adapted to malaria over just 500 years, with a genetic mutation spreading rapidly through the population. This finding provides evidence of recent genetic adaptation and highlights the impact of human migration on disease resistance.
Researchers have discovered a 19-amino acid insertion helix in the Orc4 subunit of yeast ORC that enables human-like DNA binding, transforming yeast into a humanized ORC. This finding provides new insights for cancer therapy and human development, including potential targets for anti-cancer drug screening.
Researchers at University of Missouri developed genetically modified mosquitoes resistant to Zika virus using CRISPR gene-editing technology. These 'suicide mosquitos' cannot transmit the disease and can interrupt the disease cycle, making them a potential solution for controlling the spread of Zika virus.
Dogs were likely domesticated from Eurasian wolves around 23,000 years ago, and later accompanied humans to the Americas. Genetic analysis suggests all ancient dogs belonged to a single haplogroup lineage, A2b, which is no longer found in the continent.
Researchers have discovered that Maltese patients with ALS do not have flaws in the C9orf72, SOD1, TARDBP, and FUS genes, which are common in European ALS cases. Instead, a higher percentage of Maltese patients without a family history of ALS have harmful DNA mutations in rarely damaged genes.
The study investigates the biodistribution of AAV gene transfer vectors in nonhuman primates using quantitative positron emission tomography (PET). The results show that both AAVrsh.10 and AAV9 vectors distribute primarily to the liver, with lesser detection in the brain after intravenous administration.
Researchers sequenced ancient DNA from dire wolf sub-fossils, showing they diverged from grey wolves over 5 million years ago. Dire wolves remained isolated in North America for millions of years, becoming genetically distinct from other canids.
Researchers at UC San Diego and UCLA found that de novo mutations in tandem repeats are associated with autism spectrum disorders. The study analyzed 1,600 families and identified an average of 50 de novo mutations at tandem repeats in each child, regardless of whether they were affected by autism.
Scientists have created glowing probes to visualize four-stranded DNA in living cells, revealing its interaction with molecules and shedding light on its role in cancer and other diseases. The discovery opens up new avenues for research and potential drug development.
Researchers have developed a method to detect Cas9 protein, a key component of CRISPR/Cas gene editing technology, in human plasma and mouse models. This breakthrough aims to identify athletes who may be using gene doping to gain an unfair advantage.
A new study combining archaeological work with genetic technology sheds light on the peopling of the Caribbean. The analysis of 263 ancient human genomes shows two major migratory waves in the region, revealing a highly mobile population with distant relatives often living on different islands.
Researchers at Cold Spring Harbor Laboratory discovered a protein called BLMP-1 that coordinates gene activity in response to environmental changes. The protein pauses development when nutrients are scarce and resumes it when conditions improve.
Scientists have created a global atlas of direct interactions between SARS-CoV-2 RNA and the human proteome, revealing 18 key host proteins involved in viral replication. The study also identified two crucial regulators, CNBP and LARP1, which can inhibit viral replication, offering new avenues for treatment.
Researchers identify large set of gene regulatory regions in the human brain that have undergone positive selection throughout evolution. These regions are believed to contribute to the development of cognitive abilities.
Researchers at the Ragon Institute have developed a new one-step CRISPR technique to rapidly create mice capable of producing human antibodies. The method dramatically shortens the timeline for generating specialized mice, allowing scientists to accelerate their research and respond more quickly to new developments in the field.
Researchers have discovered AAV capsid-promoter interactions in the non-human primate brain, which dictate cell-specific transgene expression. This finding has profound implications for vector design in gene therapy, challenging the traditional concept of the AAV capsid as a delivery truck.
A recent study suggests that a unique human genetic mutation may contribute to the high risk of advanced cancers, with approximately 30% of people still producing dysfunctional Siglec-12 proteins. These individuals are at twice the risk of developing advanced cancer compared to those who cannot produce the protein.
Researchers discovered that a high proportion of advanced carcinomas carry a mutant form of the Siglec-XII protein, which is rarely expressed in normal humans. This finding may explain why humans are more prone to aggressive cancers compared to chimpanzees.
DeepMAge is an epigenetic aging clock that accurately predicts human age on over 6,000 DNA methylation profiles, outperforming previous clocks. The clock reveals associations with various age-related conditions, including cancer, dementia, and obesity.
Researchers at the University of Pittsburgh School of Medicine have developed a method to create lab-grown liver organoids with blood- and bile-handling systems using synthetic biology and machine learning. The resulting organs can mature faster than natural organs, extending the life of mice with failing livers.
An international team of researchers has connected specific genetic signals with specific areas of the face, identifying 203 genomic regions that play a role in human facial development. The study sheds light on craniofacial malformations such as cleft lip and palate, as well as evolutionary differences between various populations.
Researchers at the University of Chicago Medical Center have identified two new genes associated with preterm birth: HAND2 and GATA2. These genes play a crucial role in endometrial decidualization and embryo implantation, suggesting that their roles in pregnancy may be more important than previously anticipated.
A study led by The Jackson Laboratory and University of Maine found that the expression of Dlgap2 is associated with memory loss in mice and risk for Alzheimer's dementia in humans. Dlgap2 influences the formation of dendritic spines on neurons, which can affect cognitive function.
Researchers at Harvard University have captured high-resolution 3D images of human chromosomes, providing evidence to change the traditional X-like symbol used in textbooks. The images show that chromosome structure plays a crucial role in regulating gene transcription and cell division.
Recent studies report increased risk of rAAV mobilization in gene therapy, raising concerns for treated individuals and unintended populations. The research highlights the potential for rAAV vector production to replicate under certain conditions.
Researchers at UW Medicine created two cell atlases that map gene expression and chromatin accessibility in human development, providing unprecedented data for understanding cell differentiation. The atlases identify 77 main cell types and approximately 650 cell subtypes, shedding light on the regulatory 'grammar' of the cell.
A large international consortium has sequenced the genome of 130 mammals and analyzed existing data to identify important DNA positions. This information can help researchers understand disease mutations in humans and preserve endangered species.
A recent study published in Gastroenterology identified rare and common genetic variants that significantly increase the risk of developing life-threatening blood clots in IBD patients. The research suggests that genomic medicine could help lower this threat, enabling physicians to provide more precise care.
Researchers used ancient DNA samples to reconstruct the population history of prehistoric dogs, finding they diverged into at least five distinct lineages by 11,000 years ago. The study also suggests human-dog migration patterns didn't always align, with some populations showing little genetic influence from wolves.
Scientists identify a 34,000-year-old Early East Asian fossil with mixed Eurasian descent, showing a quarter of its ancestry came from western Eurasians. The study found that the individual's DNA contained segments from extinct hominins, including Denisovans and Neandertals.
The study identified over 3 million novel variants in African genomes, showcasing the continent's vast genetic diversity. It also revealed complex patterns of ancestral mixing and natural selection, shedding light on population history, environmental adaptation, and disease susceptibility.
Studies identified genetic variants associated with COVID-19 severity, including a locus on chromosome 3 and novel genes. Researchers also explored therapeutic strategies and transmission dynamics of the virus.
The COVID-19 Host Genetics Initiative presents the results of a genome-wide association study, exploring genetic determinants of COVID-19 susceptibility, severity, and outcomes. The initiative brings together over 1,100 researchers from 46 countries to share data and accelerate research.
Researchers used cell-free DNA to monitor infectious and immune-related diseases, including COVID-19 infection, and identified tissue-of-origin through methylation markers. This technology has potential clinical applications in screening for tissue damage, detecting cancer early, and patient care.
Researchers at UNC School of Medicine found that most rhinoviruses require human protein STING to infect cells and cause disease. The discovery opens a new avenue for controlling infection and could lead to targeted therapies for treating common colds and acute wheezing episodes.
Researchers at Duke University identified mutations in SARS-CoV-2 that helped it thrive in humans, including two regions dubbed Nsp4 and Nsp16. These changes affected RNA folding and may have contributed to the virus's ability to spread before symptoms appeared.
The University of Chicago research team has created a novel self-assembling nano-vaccine called ToxAll to protect humans from toxoplasmosis. The vaccine uses immunosense technology to boost each component of the immune system and deliver components of the parasite to relevant target cells.
Researchers at NYU Abu Dhabi have discovered a new immune evasion strategy used by the Plasmodium parasite, which could help develop novel therapeutic strategies and vaccines for malaria. The study found that microRNAs play a crucial role in regulating genes involved in the immune response.
The ASHG 2020 Virtual Meeting brings together thousands of scientists, clinicians, and advocates to share knowledge on the latest developments in human genetics and genomics. The event features over 200 oral presentations, nearly 2,000 scientific poster presentations, and special sessions recognizing outstanding achievements.
A new study characterizes the microbial diversity of ancient gut contents from medieval latrines, providing insights into pre-industrial agricultural populations' microbiomes. The research highlights the value of ancient latrines as sources of bio-molecular information, shedding light on the health of modern microbiomes.
A new study analyzed DNA from medieval latrines in Jerusalem and Riga, Latvia, providing insights into the microbiomes of pre-industrial agricultural populations. The findings highlight the value of ancient latrines as sources of bio-molecular information and may provide context for interpreting modern microbiome health.
Researchers analyzed gene expression in liver, heart, and muscle tissues of aging mice to define an 'aging footprint.' This data helped identify genes and proteins controlling the aging process, which may also be relevant in human aging. The study's findings have implications for understanding age-related diseases.