Articles tagged with Human Genetics
Comprehensive exploration of living organisms, biological systems, and life processes across all scales from molecules to ecosystems. Encompasses cutting-edge research in biology, genetics, molecular biology, ecology, biochemistry, microbiology, botany, zoology, evolutionary biology, genomics, and biotechnology. Investigates cellular mechanisms, organism development, genetic inheritance, biodiversity conservation, metabolic processes, protein synthesis, DNA sequencing, CRISPR gene editing, stem cell research, and the fundamental principles governing all forms of life on Earth.
Comprehensive medical research, clinical studies, and healthcare sciences focused on disease prevention, diagnosis, and treatment. Encompasses clinical medicine, public health, pharmacology, epidemiology, medical specialties, disease mechanisms, therapeutic interventions, healthcare innovation, precision medicine, telemedicine, medical devices, drug development, clinical trials, patient care, mental health, nutrition science, health policy, and the application of medical science to improve human health, wellbeing, and quality of life across diverse populations.
Comprehensive investigation of human society, behavior, relationships, and social structures through systematic research and analysis. Encompasses psychology, sociology, anthropology, economics, political science, linguistics, education, demography, communications, and social research methodologies. Examines human cognition, social interactions, cultural phenomena, economic systems, political institutions, language and communication, educational processes, population dynamics, and the complex social, cultural, economic, and political forces shaping human societies, communities, and civilizations throughout history and across the contemporary world.
Fundamental study of the non-living natural world, matter, energy, and physical phenomena governing the universe. Encompasses physics, chemistry, earth sciences, atmospheric sciences, oceanography, materials science, and the investigation of physical laws, chemical reactions, geological processes, climate systems, and planetary dynamics. Explores everything from subatomic particles and quantum mechanics to planetary systems and cosmic phenomena, including energy transformations, molecular interactions, elemental properties, weather patterns, tectonic activity, and the fundamental forces and principles underlying the physical nature of reality.
Practical application of scientific knowledge and engineering principles to solve real-world problems and develop innovative technologies. Encompasses all engineering disciplines, technology development, computer science, artificial intelligence, environmental sciences, agriculture, materials applications, energy systems, and industrial innovation. Bridges theoretical research with tangible solutions for infrastructure, manufacturing, computing, communications, transportation, construction, sustainable development, and emerging technologies that advance human capabilities, improve quality of life, and address societal challenges through scientific innovation and technological progress.
Study of the practice, culture, infrastructure, and social dimensions of science itself. Addresses how science is conducted, organized, communicated, and integrated into society. Encompasses research funding mechanisms, scientific publishing systems, peer review processes, academic ethics, science policy, research institutions, scientific collaboration networks, science education, career development, research programs, scientific methods, science communication, and the sociology of scientific discovery. Examines the human, institutional, and cultural aspects of scientific enterprise, knowledge production, and the translation of research into societal benefit.
Comprehensive study of the universe beyond Earth, encompassing celestial objects, cosmic phenomena, and space exploration. Includes astronomy, astrophysics, planetary science, cosmology, space physics, astrobiology, and space technology. Investigates stars, galaxies, planets, moons, asteroids, comets, black holes, nebulae, exoplanets, dark matter, dark energy, cosmic microwave background, stellar evolution, planetary formation, space weather, solar system dynamics, the search for extraterrestrial life, and humanity's efforts to explore, understand, and unlock the mysteries of the cosmos through observation, theory, and space missions.
Comprehensive examination of tools, techniques, methodologies, and approaches used across scientific disciplines to conduct research, collect data, and analyze results. Encompasses experimental procedures, analytical methods, measurement techniques, instrumentation, imaging technologies, spectroscopic methods, laboratory protocols, observational studies, statistical analysis, computational methods, data visualization, quality control, and methodological innovations. Addresses the practical techniques and theoretical frameworks enabling scientists to investigate phenomena, test hypotheses, gather evidence, ensure reproducibility, and generate reliable knowledge through systematic, rigorous investigation across all areas of scientific inquiry.
Study of abstract structures, patterns, quantities, relationships, and logical reasoning through pure and applied mathematical disciplines. Encompasses algebra, calculus, geometry, topology, number theory, analysis, discrete mathematics, mathematical logic, set theory, probability, statistics, and computational mathematics. Investigates mathematical structures, theorems, proofs, algorithms, functions, equations, and the rigorous logical frameworks underlying quantitative reasoning. Provides the foundational language and tools for all scientific fields, enabling precise description of natural phenomena, modeling of complex systems, and the development of technologies across physics, engineering, computer science, economics, and all quantitative sciences.
Researchers reevaluate human migration, proposing a new timeline for the spread of modern humans out of Africa. According to studies involving fossil analysis and genetic research, this migration likely took place between 40,000 and 60,000 years ago.
Despite rapid brain growth, human brain genes have slowed down evolution since the split from chimpanzees. Complexity and gene-gene interactions place constraints on brain genes, hindering change. Genes in humans evolve more slowly than in other primates or mice.
Researchers found that humans and chimps share approximately 96% of their genes, with the remaining 4% being unique to each species. The study discovered a significant increase in gene duplication among humans, including those influencing brain functions, providing new insights into human evolution.
New research at Washington University School of Medicine finds that the relative abundance of two common gut bacteria groups is altered in obese humans and mice. The findings suggest that these microbes may play a role in how much energy is extracted from the diet and stored as fat.
University of Florida researchers validate the use of mitochondrial DNA (mtDNA) to study ancient migrations and population sizes. By analyzing correlations between mtDNA diversity and protein variation, they demonstrate that mtDNA remains a useful tool for understanding population dynamics.
Researchers found 56% of gene families studied across five species have grown or shrunk, suggesting frequent evolutionary changes. Humans gained 689 genes through gene duplication and lost 86 since diverging from chimps.
The sea urchin genome shares significant similarities with the human genome, including genes associated with Parkinson's, Alzheimer's, and Huntington's diseases. The discovery could hold key insights into developing new treatments and therapies.
Scientists studying Neanderthal teeth using X-rays from the ESRF found that their dental development is very similar to modern humans. The research team discovered complex folding of the enamel dentine junction, which suggests a deep embryological origin and may have been functionally significant.
The genomes of Neanderthals and modern humans are at least 99.5-percent identical, yet there is no evidence of significant crossbreeding between the two species. This finding has significant implications for our understanding of human evolution and ancestry.
Researchers have identified key genetic changes required for the H5N1 avian influenza virus to adapt to easily recognize human receptors. The study provides a molecular blueprint for these changes, which could help detect pandemic strains earlier and prepare public health officials and vaccine manufacturers.
A recent genetic study reveals that humans and Neanderthals shared a common ancestor around 706,000 years ago, but the two species diverged around 370,000 years ago. The study found no evidence of genetic admixture between Neanderthals and humans, contradicting previous theories.
The sea urchin genome reveals 23,300 genes and a sophisticated innate immune system. Humans share genes associated with diseases like muscular dystrophy and Huntington's disease with these eyeless animals, which can sense light through their feet.
Researchers have sequenced the sea urchin genome, revealing a powerful model system for studying embryonic development and immunity. The study's findings could lead to new insights into human skeletal formation and immune system function.
Researchers have identified TRP channel genes as crucial in nicotine dependence, which could lead to new treatments for tobacco addiction. The study uses C. elegans worms as a model to understand the genetics of nicotine dependence.
A study reveals human-specific sequence changes in DNA sequences regulating nerve cell adhesion molecules, leading to the uniquely human features of brain development and function. The researchers identified accelerated evolution of conserved noncoding sequences near genes involved in neuronal cell adhesion.
A study in fruit flies reveals how genes respond to alcohol, offering insights into human susceptibility to abuse. The researchers found that exposure to alcohol modifies the expression of many genes in flies, some of which are also present in humans.
Researchers identified 202 'highly accelerated regions' of DNA that have undergone rapid evolution since humans and chimps diverged, with most not coding for genes. These regions are conserved across multiple species, suggesting they play important roles in controlling gene expression and development.
Early mammals' eyes have only one version of the photoreceptor gene that detects light, unlike birds, fish, and amphibians with two versions. This suggests they may have been nocturnal creatures.
Researchers have identified a gene mutation in fruit flies that regulates sensitivity to alcohol. The study found that some fruit flies were more resistant to alcohol's sedative effects, and the researchers isolated the specific genetic mutation responsible.
A Dutch researcher found that genetic characteristics, such as sweat production and brain receptor genes, can predict which drug works best for each patient. This information may lead to more effective treatment allocation for alcoholics.
The study provides valuable insights into the genetic causes of Parkinson's disease and offers a starting point for further research. Researchers have made the data publicly available, creating a resource that can be used by other scientists to accelerate progress in the field.
Researchers found a unique genetic mutation that makes people susceptible to herpes simplex virus-1, leading to viral encephalitis. The study challenges current thinking on how genes work with infections, providing new insights into the immune system's response to pathogens.
Researchers at Mayo Clinic have discovered that HIV requires a specific human protein, LEDGF/p75, to integrate into the human genome. The study found that disrupting this connection could lead to new therapies for HIV or safer gene therapy methods.
Researchers at Michigan State University have identified 5,331 unique genes in the human egg, which may hold the key to understanding fertility issues and developing new stem cell therapies. The discovery could also pave the way for the creation of healthy stem cells without the need for fertilized embryos.
A study has found that a specific gene linked to brain development in humans differs dramatically from its counterpart in chimpanzees. The gene, called HAR1, has undergone significant changes over the past five million years, with 18 of its 118 letters changing between humans and chimps.
A recent study published in Cell reveals that mice have two proteins working together to protect chromosome ends, suggesting rapid evolution. The findings identify the distinct functions of POT1a and POT1b proteins, which could impact human telomere biology.
Researchers found that genetic instructions for constructing and positioning human limbs originated from ancient fish ancestors around 100 million years ago. They isolated genes from the spotted catshark and discovered a shared developmental mechanism between median fin development and limb formation.
Australian researchers identified a new protein in human airway epithelial cells that regulates allergic airway inflammation. A study suggests the protein aP2 plays an essential role in both type 2 diabetes and allergic airway diseases like asthma.
Researchers at Cold Spring Harbor Laboratory have identified two human genes, Yap and cIAP1, that contribute to liver cancer. The study reveals these proteins are overexpressed in both mouse and human tumors, suggesting they could be targeted for novel cancer therapies.
Researchers studied kuru, a prion disease epidemic caused by cannibalism, and found minimum incubation periods ranging from 34 to 41 years. The study suggests BSE infection incubation period could be even longer due to species-barrier effects and genetic variation associated with extended incubation periods.
Researchers have identified three variations of a human gene, SP110, associated with tuberculosis susceptibility. The variants were found to be linked to increased risk of developing the active disease in humans, building on previous research that linked a similar gene, Ipr1, in mice.
The NIH has launched an effort to make more knockout mouse models widely accessible to the biomedical research community. The initiative aims to deposit existing knockout mouse lines into public repositories, increasing their availability and accelerating the development of new strategies for understanding and treating human disease.
A comprehensive literature-derived database of yeast interactions has been created, containing over 22,000 protein interactions and 11,000 genetic interactions. The database is publicly available and enables researchers to gain further insight into individual gene functions and biological network features in yeast.
A team of researchers led by UB microbiologist Steven R. Gill analyzed the DNA of microbes in the human distal gut using metagenomics. The study found significant differences between two microbial communities from healthy individuals, highlighting the importance of understanding the interactions between human and microbial genomes.
A new study from the University of Wisconsin-Madison found that a negative energy balance, induced by exercise and lower body weight, inhibits the growth of polyps in mice. The researchers also discovered that exercising mice had fewer polyps and less body fat compared to non-exercising mice.
Researchers found that in mice, proteins Rb and p107 compensate for each other in retinal progenitor cells, preventing deregulated proliferation that leads to retinoblastoma. In contrast, humans lack these compensatory mechanisms due to the main protein RB1, leading to retinoblastoma.
Research reveals that human T cells lack expression of certain 'Siglec' molecules, which regulate T cell activation in nonhuman primates. This absence may contribute to the disparity in disease susceptibility between humans and great apes. The study highlights the potential for Siglecs to act as a 'brake' on T cell activation.
Researchers found that oxidized nucleobases in human DNA are associated with hotspots of genetic recombination and polymorphism. The distribution of these abnormally placed adenine nucleotides is not random but clustered in chromosomal regions with high meiotic recombination rates.
Researchers discovered erythrovirus genome persistence in human tissues, which is ubiquitous and life-long. The Bioportfolio provides a novel database for analyzing microbial species and their variants, offering potential long-term permanence for gene therapy vectors.
Researchers identified a gene variant that protects against type 2 diabetes, heart disease, and hypertriglyceridemia. The T-87C variant was found to lower triglyceride levels by 12% and reduce heart disease risk by 34%, offering potential therapeutic targets.
An interdisciplinary team of scientists and physicians has developed guidelines for treating severely injured patients, focusing on inflammation response and genetic factors. The project aims to improve patient care through standard treatment procedures and tailored treatments based on genetic data.
Scientists have developed a new method using molecular beacons to visualize and detect the genome of the respiratory virus in live cells. This technique allows for early detection of the virus, which is essential for treating the disease.
Researchers confirm that both humans and chimpanzees possess gene variants related to bitter taste, but the reasons behind these variations differ. The new findings challenge a 65-year-old genetic discovery made by Sir Ronald Aylmer Fisher, instead attributing the phenomenon to convergent evolution.
Researchers have discovered a 100-kilobase segment of DNA missing from the agouti signaling protein (ASIP) gene in gibbons. The ASIP gene plays a role in lipid metabolism and energy homeostasis, but its deletion may have helped gibbons adapt to arboreal niches. Future studies will examine the physiological effects of this deletion.
A DNA gene vaccine successfully reduced amyloid-beta 42 protein buildup in the brains of mice with a genetic mutation associated with Alzheimer's disease. The vaccine elicited high levels of antibodies and significantly decreased brain plaques, offering a promising therapeutic option for the disease.
A study by Duke University researchers found that prenatal exposure to genistein, an active ingredient in soy, reduced obesity in Agouti mice offspring. The findings suggest a link between early life nutrition and long-term health outcomes, and may have implications for human health.
A UCR-led study identifies RNA silencing as a key innate immunity mechanism protecting fruit flies from viral infections. The research reveals the molecular basis of this antiviral response and suggests potential implications for understanding human antiviral defenses.
A recent study has outlined the genetic differences between two potential pandemic influenza strains of H5N1, revealing increased genetic diversity and a higher risk of human transmission. The research found that the viruses belong to genotype Z, with one strain being more virulent than others.
Scientists find gene regulation plays a key role in human-chimp differences, with rapid changes occurring in transcription factors over 5 million years. These changes may be linked to dietary shifts and cooking habits, enabling humans to thrive in new environments.
Scientists found that changes in transcription factor genes, which control expression of other genes, played a key role in human evolution. The study suggests that rapid adaptations to changing environments, such as the use of cooked food, drove these changes.
Researchers found that humans lost genes related to the sense of smell, bitter taste, and immune response, which may have improved our ability to fight infections. The loss of the CASPASE12 gene, in particular, led to a stronger immune response, but also made it harder for humans to fight off severe bacterial infections.
A study at the University of Texas M. D. Anderson Cancer Center found that Z-DNA, a twisted shape of DNA, can cause genetic instability and breaks in human cells, particularly in those with Burkitt's lymphoma. The research opens up a new field of inquiry into the role of DNA shape in genomic instability and cancer.
Researchers identified a specific set of genes expressed differently in individuals with eosinophilic esophagitis (EE), a chronic disease causing inflammation in the esophagus. The study found that eotaxin-3 levels were significantly higher in EE patients, suggesting potential therapeutic targets.
A recent study using genetic data demonstrates a drastic decline of orang-utan populations on the island of Borneo, coinciding with colonial powers' arrival and accelerated timber extraction. The research highlights the urgent need for conservation efforts to protect the species.
A recent study has found that human and chimp molecular evolution rates are surprisingly similar, indicating that certain human-specific traits such as generation time may have evolved only one million years ago. This slowdown in the molecular clock correlates with a longer generation time, which is also characteristic of humans.
Researchers found two sequences in Gli1 protein that prevent its degradation, leading to accelerated tumorigenesis and shorter tumor latency. This discovery may represent a novel anticancer therapy by modulating Gli protein stability.
Researchers discovered a single mutation in human TRIM5 gene that impairs its ability to defend against retroviruses, including HIV. This mutation occurs at high frequency in some ethnic groups and may have contributed to the evolution of impaired retroviral defense genes.
A new study has challenged previous reports that cannibalism played a significant role in shaping the human genome. The research, published in Genome Research, found a deficit of intermediate frequency variants in the PRNP gene, suggesting a complex history of episodic or fluctuating selection.
Scientists have identified the DNA sequence controlling the malaria parasite's ability to change its disguises, a key virulence factor. This breakthrough could lead to the design of a drug candidate molecule that freezes the parasite's disguise capability, allowing the human immune system to respond effectively.
Researchers have identified a genetic factor leading to forehead and frontal bone malformations, which can cause severe craniofacial defects. A potential therapy using FGF supplements may help prevent these defects in embryos with missing TGF-beta genes.