Articles tagged with Human Genetics
A study found that over 10% of people with severe COVID-19 have misguided antibodies attacking the immune system, while 3.5% carry genetic mutations impacting immunity. These groups lack effective immune responses crucial for protecting against viruses, leading to life-threatening pneumonia.
Researchers have successfully sequenced the Y chromosomes of Neandertals and Denisovans, shedding light on their genetic relationships. The findings reveal that Neandertals had adopted male sex chromosomes from modern humans, with similar patterns seen in mitochondrial DNA.
Researchers analyzed Y chromosomes of Denisovans and Neanderthals, finding early gene flow events led to replacement of archaic Neanderthal Y chromosomes by modern human Y chromosomes. No replacement of Denisovan Y chromosomes with H. sapiens Y chromosomes was observed.
Researchers at Duke University have identified a potential new drug candidate against enterovirus 71, a common cause of severe hand, foot and mouth disease. The small molecule inhibits the virus's RNA structure, blocking replication and potentially offering a new treatment option.
University at Buffalo biophysicist Priya Banerjee is investigating protein-RNA condensates, which play vital roles in cellular processes and certain human diseases. The research aims to understand the molecular forces governing their composition and behavior.
A genome-wide association study has identified genetic markers associated with a higher risk of developing capecitabine-induced hand-foot syndrome. The study found that patients with low levels of R-cadherin and involucrin were more likely to experience severe skin symptoms.
A new study found that humans exhibit slower epigenetic aging than chimpanzees, with certain DNA sites gaining or losing chemical tags in a clock-like pattern. The researchers analyzed over 850,000 DNA sites in blood samples from 83 chimpanzees aged 1 to 59 and found that aging leaves its mark on the chimpanzee genome, similar to humans.
Recent studies in human genetics reveal insights into transcriptional regulation, gene expression, and mutation's role in shaping the human genome. These findings have important implications for understanding human health and disease, with applications in fields such as medicine and evolutionary biology.
The segmentation clock, which governs embryonic body pattern formation, progresses more slowly in humans than in mice. Human cells exhibit slower degradation rates and longer transcription/translation times for the HES7 protein.
A study investigating SARS-CoV-2 infections on 16 Dutch mink farms found evidence of zoonotic transmission, where the virus jumped between people and minks. The study revealed that over 66% of farm workers had SARS-CoV-2 infection, suggesting direct contact with infected minks was a primary mode of transmission.
The GTEx project reveals population-specific and sex-specific differences in gene expression that can inform how gene variants impact aging and disease. The findings highlight the importance of accounting for sex differences and individual variation in future studies.
Researchers at University of California San Diego use artificial intelligence to identify a DNA activation code called the downstream core promoter region (DPR) that's used as frequently as the TATA box in humans. The discovery could be used to control gene activation in biotechnology and biomedical applications.
Bioengineers at UC San Diego have discovered a new type of membrane-associated extracellular RNA, or maxRNA, that is present on the surface of human cells. This finding suggests a more expanded role for RNA in cell-to-cell and cell-to-environment interactions than previously thought.
Researchers created a comprehensive single-cell transcriptome atlas of the human retina's aging process. The study reveals regional and cell-type specific differences in gene expression associated with various age-related diseases.
A study published in Cell Reports identifies new possible entry points for SARS-CoV-2 into human bodies, including the nasal mucosa and potential hotspots such as the intestine and kidneys. The research provides insights into cellular factors that could contribute to the virus's spread and suggests promising candidates for therapies.
A meta-analysis of NHP studies reveals that AAV gene therapy often causes DRG pathology with no clinical effects, prompting preclinical safety evaluations before clinical trials. The study's findings have the potential to streamline the development process for new vectors.
Researchers genetically rewired yeast cells to manufacture tropane alkaloids, a family of chemical compounds used in traditional medicine for centuries. The breakthrough could provide new sources for plant-based medicines, addressing global shortages and supply chain disruptions.
Researchers developed a lethal mouse model for SARS-CoV-2 by infecting genetically engineered K18-hACE2 mice with the virus. The study reveals acute disease symptoms and fatal outcomes in these mice, providing a valuable platform for medical countermeasure development.
A team of researchers at Children's Hospital of Philadelphia used new computational methods to link characteristic presentations of childhood epilepsies with specific genetic variants. They analyzed clinical information and large-scale genomic data, finding associations between 11 genetic causes and specific symptoms.
Researchers found that women's reproductive secretions have a stronger effect on sperm performance in HLA dissimilar male-female combinations, indicating post-mating sexual selection. The study suggests that fertilization capability is dependent on immunogenetic compatibility between partners.
Researchers sequenced ancient DNA from 14 woolly rhinoceroses and found that the species remained stable and diverse until temperatures rose too high for them, leading to extinction around 18,500 years ago. Genetic mutations helped the animals adapt to colder weather, but climate change ultimately contributed to their demise.
Researchers developed novel variants of adeno-associated viral (AAV) capsids with improved transduction properties in the mouse retina and cornea. The efficient gene delivery of these variants was confirmed in non-human primate tissue, adding to their potential use in treating human ocular diseases.
Researchers at UC Davis aim to create humanized mice by replacing mouse ACE2 with human ACE2 using CRISPR-Cas9 technology, allowing for the study of COVID-19 disease progression and susceptibility variations.
A new algorithm reveals evidence of interbreeding between ancient humans and their relatives, with some humans carrying DNA from an unknown archaic ancestor. The study suggests that genetic exchange occurred frequently among overlapping groups.
Researchers discovered an alternative splicing mechanism enabling parasites to thrive in the human gut's low oxygen environment. The unique enzyme variant allows for anaerobic metabolism, raising hopes for targeted treatments that are safe for humans.
Researchers studying cichlid fishes aim to understand genetic mechanisms controlling facial development, which may also apply to humans. The study's findings could help determine if certain medications prescribed for human diseases might cause facial malformations in unborn babies.
A multidisciplinary team from UTMB discovered a Zika virus mutation that may have contributed to the 2015/2016 epidemic and microcephaly cases. The study found that this mutation enhances mother-to-baby transmission, neurological disease, and lethality in newborn mice.
The ENCODE project has completed Phase 3, providing insights into the human and mouse genomes' functional elements. The study identifies over 900,000 candidate regulatory elements from the human genome, shedding light on cancer biology and other topics.
Researchers successfully expressed and purified recombinant human coagulation factor XIIIa in Pichia pastoris, demonstrating biological activity. This expression system offers an efficient way to produce FXIIIa for further studies and potential large-scale production.
A research team led by Sika Zheng identifies a mechanism that prevents death of neurons, which is triggered at neuron birth and is crucial for maintaining neural circuit integrity. The study challenges the notion that neuronal survival is determined extrinsically.
A new international study has found evidence of stone tools dating back at least 30,000 years to the first human immigration to America. The discovery was made in a Mexican mountain cave and pushes the estimated arrival time back by approximately 15,000 years.
The discovery of Chiquihuite Cave in northern Mexico challenges the long-held theory that the Clovis people were the first human inhabitants of the Americas. The site dates back to 25,000-30,000 years ago, revealing a new narrative on the colonization of the Americas.
Researchers have comprehensively described the human tissue virome atlas using next-generation sequencing technology. They detected 39 viral species in somatic tissues from 547 individuals and found associations between virus infection and human gene expression and disease onset.
Scientists have tracked quadruple helix DNA formation in living human cells for the first time, allowing them to see how it works and its possible role in cancer. The discovery could reveal new targets for drugs that interrupt gene expression, a fundamental process in gene regulation.
Researchers have discovered a single-letter change in DNA that alters the way zebrafish build their spines, leading to shorter bodies and tortured-looking spines. This mutation has similarities with fossil specimens of ancestral fish, revealing insights into spine evolution and development.
Scientists have discovered that inserting the Nix gene in female Aedes aegypti mosquitoes converts them to fertile males, which could aid in mosquito control strategies. The converted males cannot fly due to the lack of another essential gene, myo-sex.
Researchers at the University of Cincinnati found that a strain of E. coli Nissle protects human cells against pathogenic E. coli bacteria. The study suggests that Nissle may be used to develop a treatment for E. coli infections, which affect millions annually.
TARA's in vitro human cardiac models replicate drug responses similar to those observed in humans, supporting their use as a robust platform for new medicines evaluation. The models' ability to reproduce diverse mechanisms of action showcases their applicability for cardiac drug discovery and development.
Researchers found a new formula that better matches canine-human life stages, with an 8-week-old dog equivalent to a 9-month-old baby. The study also identified developmental genes that drive aging and created an age-measuring clock for different species.
Materials scientists at Northwestern University have discovered a small number of impurity atoms that contribute to the strength but also make human enamel more soluble. The study, using atomic-scale resolution, sheds light on the spatial distribution of these impurities in the enamel's core-shell structure.
Researchers isolated 179 swine influenza viruses from pigs in China, grouped into six genotypes, and found one (G4 EA H1N1) exhibiting features characteristic of the 2009 pandemic lineage. The virus showed high infectivity and transmissibility in ferrets, raising concerns about its potential for pandemic spread in humans.
Genetic study reveals modern sled dog breeds share a distinct lineage that emerged at least 9,500 years ago. The analysis of ancient and modern Arctic dog genomes suggests gene flow from Siberian Pleistocene wolves, highlighting the importance of sled technology in human subsistence.
A new USC-led study demonstrates that the peptide humanin, found in mitochondria, is closely correlated with longer lives and better health in both animals and humans. Higher levels of humanin have been observed in organisms with lower risk for age-related diseases such as Alzheimer's.
A study by University of Utah Health found that genetic mutations accumulate at an accelerating rate during puberty, affecting lifespan and fertility. Young adults with slower rates of mutation accumulation lived about five years longer than those with faster rates.
Researchers used stem cells to study the developmental effects of Neandertal DNA, finding that archaic DNA contributes to skin and hair color traits prevalent in Europeans. The study provides a proof-of-principle for using organoids to track Neandertal-derived RNA across developmental processes.
Researchers find that the human-specific gene ARHGAP11B causes an enlarged neocortex in common marmosets, a non-human primate. The study suggests that this gene may have played a key role in the expansion of the human neocortex during evolution.
A new study charts a potential path for preserving and restoring historic works by identifying microbial communities on art. Researchers found that microbes on wood and canvas surfaces can produce chemicals influencing decay rates.
A recent study by Max Planck Institute researchers used stem cells and organoids to analyze the role of Neandertal DNA in human development. The team found that archaic DNA is present in nearly all modern humans outside Africa, with certain genes associated with skin and hair color being highly prevalent in Europeans.
A new study led by Liliana Dávalos explores how coronaviruses interact with goblet cells in bats, which may hold the key to understanding why some bats are resistant to these viruses. The research aims to compare the differences between bat and human nasal tissues, with potential implications for preventing future pandemics.
A team of researchers has identified fibroblasts as the primary cells producing VEGF-C processing enzymes in zebrafish embryos. This discovery sheds light on lymphatic vessel development and may have implications for human diseases, including lymphoedema and cancer metastasis.
A new study from the University of Georgia has found that exposure to a banned flame retardant can alter the genetic code in sperm, leading to major health defects in children. The research focuses on paternal exposure prior to conception and uses a unique combination of observational and laboratory approaches.
Researchers are studying how bats adapt to the SARS-CoV-2 virus, hoping to understand the immune system's response and potentially inform human treatment. They will examine bat genome assemblies to identify patterns of gene duplication and gain/loss related to viral infection.
Researchers mapped 88,047 individual cells across 33 brain regions in humans, chimpanzees, macaques, and bonobos to identify distinctive brain regions that underwent faster evolution. The study found differences in gene expression between human oligodendrocytes and astrocytes compared to other primates.
Researchers found that rare lefty garden snails have shells formed by a developmental accident rather than inheritance. Dr Angus Davison's appeal for help finding a mate for Jeremy led to the discovery of over 40 lefty snails, which were then bred together to test the genetics behind this condition.
Researchers used silicone dog tags as passive environmental samplers to collect data on everyday chemical exposures in dogs and their owners. They found significant correlations between exposure levels for owners and pets, as well as similarities in urinary biomarkers.
Researchers found that SARS-CoV-2 originated from a bat coronavirus and gained the ability to infect humans through exchanging a gene fragment with a pangolin coronavirus. The virus's genetic material was altered to bind to host cells, making it possible for it to infect human respiratory and intestinal epithelial cells.
A study on DNA data from 110 skeletal remains in West Asia dated 3,000 to 7,500 years ago found evidence of long-term genetic mixing and subtle population movements. The researchers suggest that this gradual change in genetic profile spread across the region over a thousand years, influencing the rise of urbanism.
Researchers developed a technique to generate human antibodies faster than existing methods using chicken immune system cells. The ADLib system can produce diverse antibodies with improved binding affinity, potentially leading to breakthroughs in cancer treatment and other medical applications.
A new study compares the distribution of mutations in human tumours to those in chimpanzees and gorillas. The research reveals that human tumours accumulate mutations in regions similar to those found in non-human primates, challenging previous theories on the genetic causes of cancer.
Two malaria vaccines developed using genetically engineered malaria parasites have shown safety and preliminary protection in phase 1/2a clinical trials. The vaccines, created by Isaie Reuling and Meta Roestenberg teams, delayed infections when exposed to mosquitoes infected with Plasmodium falciparum, the primary cause of malaria in h...