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.
The study found that the UK and Israel produced substantially more research in human embryonic stem cells than other fields. In contrast, Australia showed a modest result due to its mixed policy on stem cell research. The US is still the largest producer of research in this field but lags behind when compared to other similar fields.
Researchers have found a human virus in chimpanzees in Tanzania's Mahale Mountains National Park, which may be transmitted from visiting scientists and tourists. The discovery highlights the need for more research to establish a comfortable level of proof and protect the region through science-based changes.
New DNA analysis reveals that the original immigrants to Greenland came from a Siberian population, contradicting previous assumptions about their origins. The study found mitochondrial DNA similarities between ancient Greenlandic hair and eastern Siberia, suggesting a migration route via Alaska and Canada.
A chromatin modifying enzyme helps compensate for the fact that males have only one copy of the sex chromosome X by binding differently to male and female sex chromosomes. This process, called dosage compensation, ensures that males produce the same amount of proteins as females despite their single X chromosome.
Genetic evidence reveals a significant shift in the timeline of human migration into Island Southeast Asia, forcing a reevaluation of existing theories. The research suggests that climate change and sea-level rise drove population expansions across the region, rather than agriculture-driven 'Out of Taiwan' model.
A team of scientists discovered that Vpx protein enables the AIDS virus to reproduce by facilitating reverse transcription in the simian virus life-cycle. The findings are significant as they suggest potential new strategies to prevent replication.
A new statistical approach has been developed to study genetic variation, allowing for a finer detail of human migration history. The technique analyzes shared parts of chromosomes across the entire human genome, identifying smaller genetic contributions and surprising findings such as Mongolian ancestry in Native American Pima people.
Researchers found that 22% of essential human genes are nonessential in mice, and this discrepancy affects waste management. The study's results suggest that efficient waste management became increasingly important as life span increased in humans, making certain genes more essential.
Scientists have developed a new way to estimate the total number of protein interactions in organisms, revealing that humans have approximately 10 times more protein interactions than fruit flies. This study contradicts previous comparisons based on gene numbers, which suggested that humans and fruit flies are relatively similar.
Researchers developed a genetic model of LQTS that mimics human arrhythmia, revealing underlying mechanisms and potential therapeutic targets. The study could lead to the development of new treatments for fatal arrhythmias, particularly in pre-menopausal women who are more sensitive to certain medications.
Atrazine, a widely used weedkiller, disrupts hormonal signaling in human cells, increasing the risk of abnormal birth weight and infertility. Exposure to atrazine has also been shown to 'feminize' zebrafish, with female fish outnumbering males at concentrations comparable to those found in agricultural runoff.
Researchers have developed a faster way to generate human monoclonal antibodies against influenza virus by tapping the immune system at peak powers. The method was tested on human volunteers and showed promising results, potentially finding broad application towards almost any infectious disease.
Scientists have identified a region on human chromosome 1 that contributes to elevated blood triglyceride levels, increasing the risk of atherosclerosis and heart disease. Three genes, angiopoietin-like 3, leptin receptor, and sterol carrier protein 2, are promising candidates for further study.
Researchers found that up to one-third of genes are differentially expressed due to environment, with respiratory genes upregulated in urban populations. The study suggests that environmental factors play a large role in modulating gene expression, and that the same gene can be expressed differently depending on the environment.
A new study published in PLOS ONE found that female fruit flies often choose males who win fights, contradicting the assumption that aggression is key to successful mating. The researchers suggest that unexpected interactions between individuals, known as 'chemistry,' play a crucial role in mate selection.
A team of researchers created a functional human vascular system in mice by injecting spheroids of endothelial cells into the skin. The newly formed blood vessels are exclusively made of human endothelial cells and establish contact with mouse vessels, allowing for study of tumor growth and angiogenesis inhibitor effects.
Researchers discovered a gene in flies whose activity is controlled by protein and sugar intake, suggesting a second mechanism for glucose release under specific dietary conditions. The findings also reveal potential links between diet, insulin signaling, and life span, particularly with high-protein diets.
A team of scientists led by Dennis Jenkins found ancient human DNA in coprolites from the Paisley Caves in Oregon, dating back 14,300 years. The DNA belongs to Native Americans in haplogroups A2 and B2, common in Siberia and east Asia.
Researchers have refined the Y chromosome haplogroup tree using genetic variations, resolving branches and estimating time to ancestral common ancestors. The updated tree provides new interpretations on geographical origins of ancient sub-clades and sheds light on the ancestry of major haplogroups such as E, O, S, and T.
Researchers have produced the first detailed analysis of a hominoid-only gene, TBC1D3, which is linked to cancer. The study found that the protein helps turn on RAS, a protein active in a third of all human cancers. Further research aims to uncover the functions of human-only genes and their potential applications in fighting diseases.
Researchers discuss developments in acute lymphoblastic leukemia (ALL) and chronic lymphocytic leukemia (CLL), highlighting the potential of targeted drug therapies and cancer stem cell targeting. New molecular technologies aim to improve treatment outcomes and reduce toxic side effects.
A team of researchers, led by Ted Goebel and Michael R. Waters, revises the timeline of early American arrival, proposing a 15,000-year-old migration from Alaska. New data synthesizes genetic, archaeological, and skeletal evidence to explain the complex process of peopling America.
Researchers at Monell Center found that fruit flies respond positively to most human-preferred sweeteners, highlighting the critical role of environment in shaping taste preferences. The study suggests convergent evolution in perceptual behavior, where similar environmental pressures led to similar taste responses.
Researchers at the University of Washington have identified 25 genes regulating lifespan in yeast and roundworms, with at least 15 having similar versions in humans. The study provides quantitative evidence that these genes have been conserved during evolution, suggesting potential targets for treating age-related diseases.
Researchers found evidence of donkey domestication around 5,000 years ago in Egypt, with skeletal remains showing joint wear and signs of load carrying. The study suggests that the process of domestication may be slower and more complicated than previously thought.
Scientists at Albert Einstein College of Medicine identify genetic variations influencing human longevity. The study found that female children of centenarians had higher IGF-I plasma levels, suggesting a possible compensation mechanism for impaired growth.
A research team led by the Genome Institute of Singapore found that a molecular alliance between specific proteins known as transcription factors sustains the pluripotent embryonic stem cell state. The team identified Klf2 and Klf5 as redundant molecules that substitute for Klf4, maintaining the ES cell state.
Psychologists Agneta Herlitz and Jenny Rehnman found significant sex differences in episodic memory, favoring women. Women excel in verbal episodic memory tasks and are better at remembering faces, especially of females.
The study provides a global analysis of human proteins interacting with viral and bacterial proteins, revealing possible intervention points for future therapeutics. Pathogens preferentially target high-impact human proteins called hubs and bottlenecks, which are involved in cancer pathways.
Researchers at the University of Oregon have discovered a previously unknown mechanism for cleft palate, a common birth defect. By studying a genetic mutation in zebrafish, they found that microRNA Mirn140 regulates the expression of Pdgf, a growth factor involved in cell signaling.
The study found that couples related at a third cousin level have the highest number of offspring, with an average of 4.04 children and 9.17 grandchildren. The correlation holds true across different eras and urbanization levels, suggesting a biological basis for the association.
A team at the University of Copenhagen discovered that people with blue eyes have a single common ancestor due to a genetic mutation in the OCA2 gene. This mutation resulted in reduced melanin production in the iris, effectively 'diluting' brown eyes to blue. Brown-eyed individuals exhibit more individual variation in their DNA.
Mice fed human diet exhibit distinct liver gene expression profiles compared to those on a chimpanzee diet, suggesting dietary influences on physiological differences between humans and other apes. This study replicates previous findings in mice fed different diets.
A molecular change found in human prostate cancers triggers growth of prostate cancer in mice and human cell lines. The overexpression of ERG transcription factor is thought to activate cell-invasion programs, displacing basal cells by neoplastic epithelium.
Researchers at the University of Saskatchewan have isolated a plant gene that helps plants resist environmental stresses. The study's findings could lead to the development of crops with improved tolerance to ultra-violet light and other types of radiation, ultimately benefiting agricultural productivity and ecosystem health.
Chimpanzees have been found to build 'cultures' through social learning, with different colonies adopting unique methods for food preparation and grooming. This discovery challenges the long-held assumption that culturally-learned behaviors are unique to humans.
A team from Duke University Medical Center isolated sex-determining genes from an ancient fungus, Phycomyces blakesleeanus, which contains insights into the evolution of human sexual differentiation. The findings suggest that HMG-domain proteins may have marked the beginning of sex determination in both fungi and humans.
Researchers found 26 losses of long-established genes in the human lineage, including 16 previously unknown cases. The study identified a gene for acyltransferase-3 that was lost in humans but still functional in chimpanzees and possibly gorillas.
A recent genome study found that positive selection has occurred at a rate roughly 100 times higher in the past 5,000 years compared to other periods of human evolution. The study, led by University of Wisconsin-Madison anthropologist John Hawks, identified 1,800 genes with recent genetic changes, driven by major cultural shifts such a...
Researchers have identified a gene variant associated with increased alcohol consumption in mice, which may provide new targets for developing treatments for alcohol dependence. The study suggests that glutamate pathways play a critical role in addiction and may be targeted by future drugs.
Researchers found that reducing FoxP2 levels impaired zebra finch song development, showing a critical role for the gene in vocal learning. This similarity with humans suggests shared molecular substrates for vocal learning across species.
A recent study published in Molecular Ecology reveals that the genetic distribution of brown bears was not solely determined by Ice Age isolation. Instead, human hunting and land use have had a significant impact on their genetics, allowing them to survive and thrive in central Europe during the coldest periods. This new understanding ...
A study published in Genome Biology uncovers a link between microRNA expression and retinal degeneration, potentially leading to new therapies for incurable forms of sight loss. Researchers used mutant mice that model the human eye disease retinitis pigmentosa, finding altered microRNA expression patterns.
The University of Washington's new DNA fin-printing project aims to create open-access databases for Pacific salmon populations, helping managers and scientists understand their ocean migration. By employing genetic markers, researchers can distinguish between individual fish and track population movements, informing conservation effor...
A recent study from the University of Toronto found significant differences in how genetic material is spliced to create proteins in humans and chimpanzees. The researchers discovered that six to eight per cent of alternative splicing events showed differences, which are associated with various diseases.
Research on human RecQ helicases reveals their role in regulating homologous recombination, a DNA repair pathway. Mutations in these enzymes cause cancer-predisposition syndromes, highlighting their importance in maintaining genomic stability.
Researchers at M. D. Anderson Cancer Center have identified a tumor-suppressor gene that suppresses lung tumors in mice and could provide new approaches for lung cancer prevention, diagnosis, and treatment. The GPRC5A gene is under-expressed in human lung cancer cells and its expression was found to be lower in 61% of human non-small c...
A study reveals that excess sugar consumption decreases SHGB production in the liver, a protein regulating sex steroid entry into tissues. This reduction is associated with increased fat palmitate levels and inhibited by inhibiting palmitate generation.
A team of Stanford University researchers has identified a gene responsible for giving dogs their black fur, revealing its potential connection to human stress adaptation and weight regulation. The discovery was made by analyzing DNA samples from hundreds of dog breeds, including boxers and Large Munsterlanders.
Researchers at Michigan State University have identified a new gene, JY-1, necessary for embryonic development in dairy cows. The discovery may offer insights into the cause of infertility in women, who also experience single egg release and individual births, unlike mice which release multiple eggs.
Scientists found that at least 1% of Neanderthals were likely redheads due to a point mutation in the MC1R gene. The discovery suggests that Neanderthals' pigmentation may be as varied as modern humans', with implications for understanding the evolution of human traits.
Scientists used a genetic tool to study human embryonic stem cell self-renewal and differentiation. They found that reducing or increasing the expression of oct4 gene induced differentiation, revealing a key difference in early human development regulation compared to mice.
Two scientists report a new type of mouse replaced an old type in Volo Bog between 1976 and 2001, with genetic differences apparent in just 25 years. The study suggests that environmental changes can drive rapid adaptation in animal populations, highlighting the need for conservation efforts.
A recent study reveals that Neandertals shared key changes with modern humans in the FOXP2 gene, which plays a crucial role in speech and language. This finding suggests that Neandertals may have possessed some prerequisites for language, challenging previous estimates of when human language emerged.
A team of researchers from Arizona State University has discovered the earliest evidence of modern human behavior in South Africa, dating back 164,000 years. The findings suggest that early humans expanded their diet to include shellfish and other marine resources, likely as a response to harsh environmental conditions.
Scientists have discovered a new gene, Dmp1, linked to human lung cancer, which is often deleted in lung tumors. The study found that the non-functional Dmp1 gene leads to reduced activity of tumor suppressors p53 and Arf, allowing cancer cells to grow unchecked.
Researchers at Baylor College of Medicine and Rice University have developed a molecular map of the influenza B virus's hemagglutinin protein. The study reveals similarities between the protein's sequence and function in flu A and B strains, suggesting that minor mutations could enable bird flu to spread among humans.
Scientists identified DMP1 as a tumor suppressor that activates Arf expression, inducing p53-dependent cell cycle arrest. DMP1 deletion or haploid insufficiency accelerates lung cancer development in K-ras mutated mice and patients, suggesting its potential as a target for drug therapy.
Human migration out of Africa and into Asia occurred in at least four pulses, driven by climate and sea level changes. The initial migration was thwarted, but subsequent pulses took advantage of stable climates and sea levels to expand into eastern Asia, Australia, and Melanesia.
People with a history of allergies have a nearly third lower risk of developing certain brain cancers, such as glioma. Meanwhile, genetic studies identified three locations on human chromosome 8q24 associated with an increased risk of prostate cancer.