Articles tagged with Human Genetics
Researchers at St. Jude Children's Research Hospital have developed a more accurate laboratory model for studying retinoblastoma, a rare pediatric eye cancer. The models closely mimic the biology of patient tumors and provide an important resource for studying the earliest stages of the disease as well as screening new therapies.
A new study generated 137 whole-genome sequences from eight Middle Eastern populations, filling a major gap in international genomic projects. The researchers found 4.8 million previously undiscovered genetic variants, which could hold medical relevance.
A new study published in Genome Biology found that the ability of gut bacteria to produce spores is associated with their adaptation to humans. Bacteria that can produce spores have larger genomes and are less abundant in the gut, while those that cannot have smaller genomes and are more adapted to human hosts.
Scientists at the University of Copenhagen have discovered that exercise can alter the structure of our DNA, specifically the enhancers that regulate gene expression. This epigenetic rewiring may be responsible for the beneficial effects of physical activity on human health.
Researchers identified a novel lncRNA, Teshl, which plays a crucial role in the development of Y-bearing sperm and regulates sex chromosome gene expression. The study provides new insights into sex ratio variations and suggests that genetics may be a key factor in human male infertility.
Researchers analyzed Neandertal and Denisovan genomes to identify blood groups, confirming their African origin and Eurasian dispersal. The study also found evidence of low genetic diversity and possible demographic fragility, shedding light on the disappearance of Neandertals.
A study found no detection of COVID-19 vaccine-associated messenger RNA (mRNA) in breast milk samples from vaccinated mothers. Researchers analyzed 13 human milk samples and concluded that the mRNA was not detectable.
A comprehensive genetic study led by the University of Bonn has identified 45 new regions in the human genome associated with an increased risk of cleft lip and palate. These regions are linked to variations in DNA sequences that regulate gene activity, disrupting normal facial development.
Researchers at University at Buffalo have published a detailed protocol for generating mouse-human chimeric embryos, enabling more accurate models of human development and disease. The method has the potential to revolutionize biomedical research and potentially lead to the generation of human organs for transplantation.
Scientists from the Netherlands Institute for Neuroscience found that mice have a region called 'focea' with improved visual sensitivity, similar to the fovea in human retinas. This discovery suggests that mice may be better models for studying human vision than previously thought.
Researchers have developed a method to control the degradation of messenger RNA, which could lead to more efficient biotechnological functions and improved medical outcomes. This breakthrough has potential applications in vaccine development, genome engineering, and therapeutic treatments.
A UCLA-led study comparing human and mouse astrocytes found that mouse cells are more resilient to oxidative stress, a key mechanism behind many neurological disorders. The findings have important implications for basic and translational research into conditions like Alzheimer's disease, Parkinson's disease, and amyotrophic lateral scl...
Researchers discover a previously unknown population of archaic hominin in Israel, exhibiting unique features between Neanderthals and modern humans. The findings suggest close cultural interactions and genetic admixture between different human lineages before 120,000 years ago.
This study highlights PGC1α's role in maintaining vascular smooth muscle cells' contractile phenotype and reducing atherosclerotic plaque formation. Overexpression of PGC1α attenuates high cholesterol diet-induced atherosclerosis in rabbits, showing its therapeutic potential for cardiovascular diseases.
A joint research team led by Prof. FU Qiaomei has sequenced the ancient genomes of 31 individuals from southern East Asia, unveiling a missing piece of human prehistory. The study reveals three genetically distinct ancestries in southern East Asia and Southeast Asia: Fujian ancestry, Hòabìnhian ancestry, and Guangxi ancestry.
A new study by NYU Langone Health researchers discovered a molecular mechanism hijacked by SARS-CoV-2 that makes it vulnerable to drug candidates. The study showed that coronavirus reproduction requires chemical changes made by the human protein METTL3, which can be inhibited by the compound STM2457.
A study of 18 bat species in Switzerland revealed 39 different viral families, with 16 infecting vertebrates and potentially posing a risk to humans. A near-complete genome of an MERS-CoV-related virus was also identified, highlighting the need for continued monitoring of viruses carried by bats.
The study reveals that the pituitary gland in mice ages as a result of chronic inflammation, which can potentially be slowed down or partially repaired. The researchers found that stem cells in the ageing pituitary gland retain their regenerative capacity when taken out of an inflammatory environment.
African MERS-CoV strains show lower replication rates and virulence compared to Saudi Arabian strains. Spike protein differences contribute to the disparity, raising concerns about increased transmission and global outbreak risk.
Researchers found that puppies as young as 8 weeks old demonstrate social communication skills, such as following pointing gestures and engaging in eye contact. Genetics explain more than 40% of the variation in puppies' abilities, suggesting an innate capacity for human interaction.
Scientists have measured the mass of human chromosomes using X-rays for the first time, finding them to be significantly heavier than expected. The study's results suggest there may be unexplained excess mass in chromosomes, which could have important implications for understanding human health and diagnosing cancer.
Researchers have mapped the genetic changes of malaria parasites in unprecedented detail, revealing new targets to block key stages in the parasite's development. This could lead to new ways to prevent transmission through future drugs or vaccines.
A team of biologists has developed a new classification system for cell nuclei, revealing how species can switch between different nuclear types. The researchers discovered that mutations in a protein called condensin II can convert human cells into fly-like nuclei, and created a computer program to simulate the effects.
A new study from Clemson University identifies specific cell clusters in the brain of fruit flies affected by acute cocaine exposure. The findings show widespread changes in gene expression and distinct differences between males and females, potentially leading to therapeutic development.
Researchers discovered innate immune markers increased in frequency in modern people from a region that experienced the plague, suggesting these markers might have evolved to resist the disease. The study also found changes in allele distribution for immune-related genes, which could be evidence of past Yersinia pestis exposure.
A genetic study has identified two regions in the canine genome associated with a high risk of developing an aggressive form of hematological cancer, known as histiocytic sarcoma. The research, which combined multiple sequencing techniques, found that these regions account for 35% of the risk of the disease in flat-coated retrievers.
Researchers developed a gold leaf electrode system that sensitively detects human papillomavirus (HPV) DNA using CRISPR-based assay. The method is simple, affordable and adaptable to detect other viral infections, addressing a need for diagnostic tests in low-resource settings.
Researchers at Gladstone Institutes have adapted CRISPR-Cas9 technology to edit human monocytes, a type of white blood cell that plays key roles in the immune system. The study shows the potential utility of gene editing for understanding how the human immune system fights viruses and microbes.
Scientists discovered that errors often occur when genetic material from each parent combines immediately after fertilization, leading to incorrect numbers of chromosomes. This process is surprisingly inefficient and can result in developmental defects and miscarriage.
Ancient DNA analysis reveals that Bronze Age migrations changed burial practices and kinship structures in Italy. The study found that Steppe-related ancestry arrived in Central Italy around 3,600 years ago, while Northern Italy received it around 4,000 years ago.
A study reveals significant epigenetic differences in the cerebellum of humans, chimpanzees, and monkeys, highlighting its importance in human brain evolution. The findings suggest that the cerebellum played a key role in the development of human culture, language, and tool use.
The world's vast population of people, pets, and livestock has created an ideal environment for the evolution and transmission of zoonotic infectious diseases. To mitigate this threat, experts recommend using vaccination passports, maximizing genetic variation in livestock, and reducing animal protein consumption.
A new bonobo genome assembly has been created with high accuracy, allowing for precise comparisons to other great apes and humans. The study reveals over 5,500 structural variants that distinguish the bonobo and chimpanzee lineages, providing insights into gene evolution and species divergence.
Researchers discovered SARS-CoV-2 uses m6A modification to evade immune response, increasing viral replication and survival. Inhibiting METTL3 suppressed viral replication.
Researchers discovered that organisms like plants, fungi, and corals use gene conversion to inherit less mutated oDNA, unlike humans and animals which rely on a bottleneck process. This finding could have implications for crop plants where gene conversion can cause sterility.
An international team of scientists has identified 267 genes linked to creativity that differentiate Homo sapiens from Neanderthals, suggesting this genetic difference enabled humans to replace them. These genes are also associated with superior adaptation to the environment, resilience to ageing and disease, and greater physical fitness.
Researchers found that kiwi populations differ genetically between areas, but lack understanding of local adaptations and breeding changes. The study emphasizes the importance of strategic sample regimes and informative markers for developing effective conservation policies.
A new study identified 267 genes unique to modern humans that play a crucial role in creativity, self-awareness, cooperativeness, and healthy longevity. These genes are found only in Homo sapiens and not in Neanderthals or chimpanzees.
Researchers found that female mice with glioma lacking the POT1 gene survived less than males, leading to further investigation of human glioma cells. Low POT1 expression correlated with reduced survival in females, suggesting immune response and tumor cell proliferation played a role in tumor growth.
Researchers developed methods to recover, enrich and analyze archaic human nuclear DNA from cave sediments. This approach revealed new insights into Neanderthal population history, including a replacement event in northern Spain about 100,000 years ago.
The full assembly of human chromosome 8 has been completed, revealing novel genes and potential disease risks. The sequence fills in gaps missing from the current reference genome and provides new insights into immune disorders, brain development, and heart defects.
Researchers found that manual workers are twice as likely to develop ALS, with close to two-thirds of patients reporting a blue-collar job. The study also discovered that jobs involving sustained physical exertion, such as construction and carpentry, were associated with a higher risk of bulbar-onset ALS.
Researchers have identified the oldest reconstructed modern human genome, dating back around 2,000 years, from a fossil skull in Czechia. The study suggests that early modern humans did not successfully adapt to Europe, with a possible explanation being the Campanian Ignimbrite volcanic eruption.
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.
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.
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.
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.