Articles tagged with Human Genetics
A genomic analysis of ancient human remains from KwaZulu-Natal reveals that southern Africa played a significant role in the history of humankind. The study estimates the divergence among modern humans to have occurred between 350,000 and 260,000 years ago.
Researchers have discovered that the presence of ApoE4 exacerbates brain damage caused by tau tangles, leading to neurodegeneration and memory loss. Blocking ApoE4 in the brain may prevent these effects, offering a new potential therapeutic target for Alzheimer's disease.
A special issue in the Journal of Dental Research explores recent scientific and technical advances in craniofacial development and genetics. The discoveries reported could improve diagnosis and treatment of challenging craniofacial and dental anomalies.
A genetic analysis of Papua New Guinea reveals a sharp genetic divide between highlanders and lowlanders, dating back 10,000 to 20,000 years. The study, led by Anders Bergström, genotyped 381 individuals from 85 language groups across PNG, finding strong genetic differentiation within both highland and lowland populations.
A study published in mBio finds that household environment plays a major role in shaping the salivary microbiome, with similar bacteria found in individuals living together. The research team sequenced DNA and saliva from an extended Ashkenazi Jewish family to determine how environmental influences affect the microbiome.
Researchers have discovered a new type of glycan that survives in 4 million-year-old animal fossils from Kenya. This breakthrough could reveal human origins and diet, including the consumption of red meat. Gc-CS detection may classify ancient hominin fossils into two groups.
A study has characterized all of the circular DNA in the worm <em>C. elegans</em> and three human cell types, revealing different sets of circles in different cell varieties. The researchers used a 50-year-old lab technique called density gradient centrifugation to separate and purify the circular DNA.
Researchers have engineered gut bacteria to produce molecules that mimic human ligands, binding to receptors involved in glucose and appetite regulation. This breakthrough may lead to novel therapeutic approaches for diseases such as diabetes and obesity.
A study by Stanford researchers found that a widely used mouse model of the human immune system is inadequate for studying stem cell transplants. The humanized mice, engineered to have a human-like immune system, failed to robustly reject genetically mismatched human stem cells, making them unsuitable for studying immunosuppressive drugs.
A study identified a genetic risk factor for typhoid fever that targets bacterial virulence and cholesterol metabolism. The VAC14 gene variant reduces the ability of Salmonella Typhi to invade human cells, suggesting a potential preventive approach with cholesterol-lowering drugs.
Scientists have created healthy offspring from genetically infertile male mice using a new technique that removes the extra sex chromosome. The approach has potential for treating human infertility caused by Klinefelter syndrome and Double Y syndrome.
University of Nevada, Reno researchers are developing mosquitoes that can detect and avoid human odors, potentially breaking the transmission cycle of mosquito-borne diseases. The goal is to create genetically modified mosquitoes that feed on other animals, reducing resistance development.
University at Buffalo researchers have developed a method to compare human and rodent cells, providing insight into gene expression patterns conserved across species. This approach identified a new gene involved in myelin repair that may become a therapeutic target for MS patients.
A study of 116,279 individuals found 16 genetic markers associated with human lifespan, including 14 new to science. Lower brain expression of certain genes is also linked to increased longevity.
Researchers at Salk Institute have visualized chromatin structure in living human cells using a novel DNA dye and advanced microscopy. They found that chromatin forms a semi-flexible chain with varying packing density, suggesting that gene activity is determined by compaction rather than higher-order structures.
Researchers developed a new approach to model human immune variation, identifying gene markers that correlate with human disease outcomes. The study found that accounting for immune diversity is critical for predicting disease outcomes.
Researchers have found evidence of archaic admixture in modern Sub-Saharan African populations through the study of a salivary protein called MUC7. This suggests that interbreeding between different early hominin species may not have been unusual, but rather the norm.
The American Society of Human Genetics has honored Dr. Arthur L. Beaudet with the Victor A. McKusick Leadership Award, recognizing his groundbreaking work on uniparental disomy and its implications for genetic diseases. His current research focuses on neuronal carnitine deficiency as a risk factor for autism.
Forensic scientists at Nagoya University have successfully extracted human DNA from mosquitoes' stomachs and amplified it using PCR techniques. The team found that human DNA remained viable in mosquito blood for up to two days after feeding, providing a new tool for crime scene investigators.
Researchers found dosage compensation to be widespread in butterflies and moths, with consistent expression of Z-linked genes between sexes. However, gonads showed imbalance due to masculinization of the Z chromosome and loss of female-biased genes.
Researchers have identified a specific gene mutation in myopathy, a type of muscle disease, and found it plays an essential role in muscle fibre integrity. The study uses a zebrafish model to provide new insights into the genetic basis of the disease.
The study suggests that a hominin migration out of Africa occurred between 470,000 and 220,000 years ago, introducing their mitochondrial DNA to the Neanderthal population. This event reconciles discrepancies in nuclear and mitochondrial DNA phylogenies, providing new insights into human evolution.
A single genetic change linked to reduced human height is also associated with an increased risk of osteoarthritis. The variant has been positively selected in many human populations, suggesting it may have provided a survival advantage in colder climates.
A team of investigators discovered a genetic program that some cancers use to cloak themselves from the immune system, affecting detection and treatment outcomes. The research highlights potential new immunotherapy targets and biomarkers for cancer survival.
Researchers have identified a crucial protein, CIB2, essential for sound wave conversion into brain signals in the inner ear. The study reveals how this protein facilitates mechanotransduction, enabling people to interpret sounds.
A team of scientists has documented early, permanent human settlement in the Andes dating back to around 8,000 years ago. The findings suggest that hunter-gatherers adapted to high-elevation life and survived year-round despite harsh conditions.
A recent study has found that the HERV-K Gag capsid interferes with HIV-1 assembly, resulting in reduced particle release and infectivity. The researchers observed a correlation between coassembly of HERV-K Gag and decreased HIV-1 particle formation.
Researchers found genes that form heart cells in humans and animals in a sea anemone's gut, which may help explain its regenerative abilities. The study suggests potential for tweaking human gene communication to stimulate regenerative healing and treat heart conditions.
Researchers computationally recreated ancient chromosomes of the first eutherian mammal, revealing chromosomal changes that occurred over 105 million years. The study provides a detailed picture of evolutionary breakpoints and their role in forming new species and contributing to human diseases like cancer.
A study found that chronic immune-mediated inflammatory diseases are linked to a higher prevalence of cardiovascular disease in patients. The research identified specific genetic patterns associated with cardiovascular disease risk across different chronic IMID patient groups, which could lead to the development of more efficient preve...
A team of scientists has identified genetic mutations that could potentially allow the bird flu strain H7N9 to spread between humans. The researchers found that certain mutations in a key protein could enable the virus to latch onto human cells, sparking concerns about a potential pandemic.
Researchers bioengineered human liver tissues that exhibit previously unknown genetic-molecular crosstalk controlling developmental processes. The study reveals key communication between signaling proteins and receptors that instruct the development of liver tissues.
Researchers have identified the mouse lemur as an ideal model for studying primate biology and human diseases such as cardiovascular disease and Alzheimer's. The study, which involved analyzing hundreds of lemurs in Madagascar, has already revealed unique genetic traits including obesity and progressive eye disease.
The Human Cell Atlas is using sequencing technology to redefine every cell in the body. The platform will allow scientists to share and analyze vast amounts of diverse information generated by researchers across academia and industry.
Researchers aim to genetically modify human bone marrow cells to produce more bone morphogenetic protein, a key factor in bone healing, to tackle challenging bone repairs such as extensive fractures and failed spinal fusions. The five-year grant will support the study's efficacy and safety assessment.
A research team has identified the HAND2 gene as a key regulator that triggers the formation of cardiac valves in mouse embryos. This discovery advances our molecular knowledge of cardiac valve development and may also help provide genetic diagnosis for patients with congenital heart malformations.
A team of researchers discovered that C. elegans makes decisions by calculating mathematical integration of environmental information via calcium ion concentration changes in nerve cells. This process is similar to the human brain's integration of information for decision-making, suggesting a possible genetic link between the two.
A new genomic study on southern Mediterranean populations from Sicily and Southern Italy reveals a shared genetic background extending to Cyprus, Crete, Anatolia, and the Aegean islands. This shared Mediterranean ancestry may have originated in prehistoric times as a result of multiple migration waves.
Researchers have found that microbes manipulate the molecular machinery of animal cells, triggering patterns of gene expression associated with health and disease. The study suggests ancient parts of the genome and interactions with microbes are relevant to modern-day human diseases.
Scientists have successfully generated blood-forming stem cells in the lab using pluripotent stem cells from patients' own cells. The advance opens up new opportunities to create immune-matched blood cells and potentially treat genetic blood disorders.
According to Rutgers University researcher John McGann, humans can detect and discriminate an extraordinary range of odors, rivaling that of rodents and dogs. The human olfactory bulb is similar in size and number of neurons to other mammals, challenging the long-held misconception about human sense of smell.
Researchers have discovered a more favorable virus species for delivering genes, as its surface structure avoids liver toxicity. This could enable the use of viruses in gene therapies and vaccine development.
Researchers have identified the origins of Indian populations by analyzing genetic evidence from people alive in the Subcontinent today. The study reveals that hunter-gatherer groups arrived from Africa more than 50,000 years ago, while later waves of settlement came from Iran and Central Asia.
A recent study suggests that fructans in wheat plants hold the key to developing climate-resilient varieties with increased nutritional value. The authors propose using fructans as a breeding target to create healthier and more resilient wheat varieties.
A new study examining the muscles of bonobos found they are more closely related to humans than common chimpanzees. This is the first study to compare the anatomy of the three species, providing evidence for a possible link between bonobos and human ancestors.
Scientists at Max-Planck Institute develop new method to retrieve hominin DNA from cave sediments, revealing genetic affiliations of ancient humans. The discovery sheds light on human evolution, allowing researchers to uncover the genetic history of extinct species like Neandertals and Denisovans.
Researchers created a new model to study how chlamydia interacts with the human immune system, identifying key players IRF5 and IL-10RA. The results suggest these genes could be drug targets for new treatments.
Researchers have recorded spring fish migrations by analyzing DNA in water samples, providing a harmless and economical alternative to traditional methods. The study's findings suggest that environmental DNA can be used to monitor fish populations, estimate abundance, and track distribution.
Researchers explore effects of human-provided foods on large predators, finding changes in social structures, movements, and behavior. Human-fed populations often form distinct genetic subgroups, potentially leading to future speciation events.
Researchers at Babraham Institute and European Bioinformatics Institute identified a mouse epigenetic ageing clock, which shows age-related changes in DNA methylation. The accuracy of the mouse clock is surprisingly similar to humans, with lifestyle interventions affecting ticking rate.
Scientists at St. Jude Children's Research Hospital have successfully regenerated auditory hair cells in adult mice using genetic manipulation. The research marks a significant step towards treating hearing loss in humans, which affects millions worldwide.
A study on fruit flies found that a gene called THADA plays a key role in regulating metabolism and energy storage, which may have relevance to human obesity and cold tolerance. The researchers observed that THADA knockout flies were more sensitive to cold and had slower metabolisms, leading to obesity.
Researchers at Uppsala University discovered two independent mutations required for the development of sex-linked barring in chickens, a pattern resembling the common cuckoo's plumage. The study sheds light on the genetic mechanisms behind colour variation and pigmentation in birds.
Researchers at Washington State University have identified a key gene involved in the quality of sleep experienced by humans and animals. The study found that a variant of the gene FABP7 is associated with poorer sleep quality, suggesting its importance in regulating sleep across species.
Researchers have identified a key gene in zebrafish that causes congenital blindness, which could hold the key to treating a similar disease in humans. The study found that the gene affects cone photoreceptors and leads to degeneration without impacting rod cells.
A new study of ancient DNA from northwest North America finds evidence of genetic continuity spanning over 10,000 years. The research suggests that indigenous groups living today in southern Alaska and British Columbia are descendants of the first humans to inhabit the region, supporting their oral traditions.
A UMD study found fruit flies taking naps had strongest resistance to fungal infection and bacteria Pseudomonas aeruginosa, which is a major human disease-causing agent. The research identified genes that contribute to overall immune system resistance, providing new insights into human health.
A recent study found that longer telomeres in mice may shield them from age-related human diseases. Researchers used mice with shortened telomeres to examine a genetic defect causing an age-associated congenital heart disease in humans. The findings suggest that decreasing telomere length contributes to the onset of age-related diseases.
Researchers developed a modified Hi-C technique to identify incorrect scaffold positions and anchor sequences, achieving 99% genome assembly accuracy for human genomes. The technique was applied to assemble the genomes of two mosquito species, revealing shared ancestry that could aid in controlling disease-carrying vectors.
Archaeological excavations in northern Taiwan have uncovered significant evidence of early European presence and influence, contradicting long-held theories. The site, once a Spanish colony, now suggests that Taiwan played a crucial role as a globalized hub during the 17th century.