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 discovered genetic variation influencing immune cell function is linked to increased risk of neurodegenerative diseases like Alzheimer's. The study found a striking enrichment of functional effects in monocytes for these variants, highlighting the potential role of immune system cells in human disease pathology.
A study published in Nature Communications found that a mother's diet before conception can permanently affect how her child's genes function. Researchers analyzed blood and hair samples from infants born to mothers who conceived during rainy or dry seasons, revealing higher rates of methyl groups linked to nutrient levels and BMI.
A study has identified a dozen genetic mutations involved in changes to complete blood counts and the onset of severe biological disorders. The research used DNA from 6,796 people and found mutations in genes related to red and white blood cells and platelets.
Researchers demonstrate that transplanting hearts from genetically engineered pigs in combination with target-specific immunosuppression prolongs graft survival in baboons, paving the way for human transplantation. The study shows promise for overcoming immunologic roadblocks and eliminating the shortage of donor organs.
Researchers have sequenced the tsetse fly genome, revealing genetic adaptations that enable it to transmit diseases such as sleeping sickness and Nagana. The study provides a valuable resource for developing prevention strategies to reduce deaths and illness associated with these diseases.
Researchers have developed a new mouse model that accurately replicates the progression of Alzheimer's disease in humans. The models are characterized by early accumulation of Abeta peptides and cognitive dysfunction similar to human patients.
University of Montreal scientists discovered how Epstein Barr (EBV) virus takes over gene regulating machinery to replicate itself. The viruses trick the human defense systems by mimicking components, allowing them to survive and cause diseases like infectious mononucleosis and lymphoma.
A new genome analysis method has confirmed that humans and Neandertals interbred in Eurasia, providing a definitive answer to the long-standing debate about the origin of modern humans. The study's findings suggest that Neandertal admixture occurred after modern humans migrated out of Africa.
UC Davis researchers have identified a genetic mutation responsible for cleft palate in Nova Scotia Duck Tolling Retrievers, providing a new model for studying the craniofacial defect. This discovery may lead to a better understanding of cleft palate in humans and its associated complications.
Researchers found that European humans have a higher number of Neanderthal variants in genes related to lipid breakdown, which may have provided a selective advantage. This study suggests that Neanderthal ancestry has driven evolutionary changes in lipid processing and brain composition among Europeans.
A comprehensive atlas of human gene activity has been released, revealing complex networks that govern gene expression. The new findings could lead to a better understanding of the genetic causes of diseases and improve disease diagnosis.
A mathematical model explains how high-rank individuals in hierarchical groups engage in seemingly altruistic behavior by competing with peers in other groups, leading to increased total group effort towards conflict. This behavior is linked to within-group hierarchy and inequality, observed in nature across various species.
A recent study using brain imaging found that dogs have a stronger response to the scents of familiar humans than other humans or even familiar dogs. The research suggests that dogs' brains have mental representations of their human companions that persist even when they're not present.
A study analyzing ancient DNA from over 250 radiocarbon-dated moa samples reveals that the iconic New Zealand bird was thriving when humans arrived, contradicting previous theories of population collapse before human arrival. The research suggests human activities contributed to the moa's extinction.
A recent study identified genetic factors associated with lactase persistence in African populations, which became more prevalent after cattle domestication in Africa. Individuals retaining high levels of lactase enzyme allow them to digest milk sugars in adulthood.
A recent study discovered that IRX3 controls body mass and regulates body composition, with obesity-associated FTO introns interacting with IRX3. Mice without the IRX3 gene were significantly leaner due to reduced fat and improved glucose processing.
Research suggests that natural selection has altered European appearance over the past 5,000 years, with ancient DNA revealing darker skin, hair, and eye pigmentation. This phenomenon is comparable to other examples of adaptive evolution, such as malaria resistance and lactase persistence.
The discovery of RNase L's 3D structure reveals its role in the innate immune system and provides insights into its function. The enzyme helps defend against bacteria and possibly prostate cancer and obesity.
A CU-led study bolsters the theory that early Americans may have been isolated on the Bering Land Bridge for thousands of years before spreading throughout the Americas. The research links genetics to paleoecological evidence, suggesting a population of hundreds or thousands lived in central Beringia for 5,000 years or more.
Researchers at the University of North Carolina have discovered a new target for human antibodies that could hold the key to a vaccine for dengue virus. The team found that natural human antibodies bind to a specific region called an epitope hinge, which is composed of just 25 amino acids.
Researchers discovered a 'microbial Pompeii' in ancient dental calculus, revealing opportunistic pathogens and periodontal disease-causing bacteria. The study also recovered dietary DNA, providing insights into ancient diets and the origins of antibiotic resistance.
Researchers have discovered that genes expressed in the nasal passages can serve as accurate proxies for those expressed deeper in the lungs. This breakthrough allows for less invasive and more affordable genetic profiling of asthmatic patients, potentially leading to improved treatment options and better understanding of the disease.
A recent study has found that European beavers have low genetic diversity due to human hunting. The research, led by University of York Professor Michi Hofreiter, analyzed ancient and modern DNA to show that the beaver population was heavily impacted by expanding human populations over thousands of years.
Fred Gould will deliver a lecture on Dr. Robert L. Rabb, a pioneer in developing ecologically sound approaches to insect pest management. Gould's research has profoundly influenced global crop management and vector-borne disease control.
Researchers created a global map detailing the genetic histories of 95 populations across Europe, Africa, Asia, and South America. The study found evidence of previously unrecorded genetic mixing, including European DNA in modern-day China and Mongol DNA in Pakistan.
The study uses genome data from 1490 individuals to identify genetic mixing events between populations, dating back to historical events such as the Mongol Empire. The technique, called 'Globetrotter,' provides insight into past events and may have implications for public health and disease prevention.
A new study from the University of Surrey has identified specific effects of Chiari malformation on toy dog breeds' skulls and brains. The condition causes changes in brain shape and can lead to severe symptoms like paralysis and headaches.
Researchers have shown that boosting broadly neutralizing antibodies can protect humanized mice from both intravenous and vaginal HIV infection. The study used a novel technique called vectored immunoprophylaxis, which enabled the production of antibodies for extended periods.
Researchers have developed a new method to rank disease-causal mutations within whole genome sequences, providing a more comprehensive approach to identifying genetic variants linked to disease. The Combined Annotation-Dependent Depletion (CADD) method assigns scores to mutations across the entire genome, not just protein-coding regions.
A team of researchers has found a link between chloracne and a molecular switch called Nrf2, which causes skin changes similar to those in dioxin victims. The study suggests that therapeutic targeting of Nrf2 may be problematic due to its role in detoxification.
Researchers at the University of Utah identified three key genes controlling feather color in domestic rock pigeons, which also influence human skin pigmentation. The study found that variations in these genes result in diverse feather colors, with specific combinations explaining a significant amount of color variation across pigeon b...
A new study uncovers ADR-1 as a critical regulator of RNA editing, allowing genetic information diversity and affecting numerous human diseases. The protein's binding ability enhances mRNA editing, with decreased expression linked to neurological disorders and cancers.
A new study tracks the spread of an H5N1 variant in Egypt using phylogeography, a technique that combines viral sequence data and geographical information. The study aims to enhance efforts by public health officials to identify viral outbreaks, limit their spread, and inform the public of risks.
A study by University of Warwick researchers found that high-quality human embryos secrete a chemical signal, trypsin, which supports implantation. Low-quality embryos trigger an alarm response, leading to pregnancy loss or complications.
A genetic mutation affecting a horse's gait has been found to be spread across the world, with highest frequency in Latin American breeds like the Paso Fino. The 'gait keeper' mutation, influenced by human selection, provides a smooth ride and minimal vertical movement.
Researchers simulated conditions 10,000 years ago to discover teosinte, a wild grass believed to be corn's ancestor, exhibited characteristics similar to corn under past conditions. This finding suggests early farmers may have played less of a role in selecting for desirable traits than previously thought.
Researchers discover that Ataxin-7 anchors a key module in the SAGA complex, which regulates thousands of genes. Without Ataxin-7, this module becomes overactive, leading to misregulation of genes and neurodegeneration in fruit flies.
Researchers found that humans in east Asia have more of their genome originating from Neanderthals than Europeans, while Africans have little or none. The genetic changes most often inherited from Neanderthals were disproportionately in genes related to keratin, a component of skin and hair.
A substantial fraction of the Neanderthal genome persists in modern human populations, with over 20 percent surviving in DNA from 665 people in Europe and East Asia. This finding suggests that significant amounts of population-level DNA sequences may be obtained from extinct groups without fossilized remains.
A study published in PLOS ONE found that architectural design characteristics, human use, and ventilation sources influence bacterial community structure in buildings. Dust samples revealed over 30,000 types of bacteria, with distinct communities found in high-traffic areas and restrooms containing organisms associated with the human gut.
A new statistical model has been developed to isolate ancient DNA from fossils contaminated with modern-day DNA. This method allows for the recovery of complete mitochondrial genomes from Neandertal and anatomically modern human bones, enabling scientists to study these individuals in detail.
Researchers date the most common male ancestor 'Adam' to 209,000 years ago, contradicting a previous study that placed him 9,000 years earlier. The study also debunks the discovery of the Y chromosome that supposedly predated humanity, shedding light on human evolutionary history.
Researchers used biochemical, structural, and global sequencing techniques to study the H3K4 trimethylation mechanism in a cancer-associated protein complex. They found that the methylase's activity was directed towards specific targets through COMPASS factors that bind to the SET1/MLL front end.
Researchers found that coevolution between humans and H. pylori bacteria reduced gastric cancer risk in people of African descent, but not in Amerindian descent. The study suggests that the interaction between H. pylori and human ancestry influenced disease risk, with high African-strain infection leading to worse outcomes.
Researchers have found that the Y chromosome retains key genes essential for male fertility, contradicting theories of its demise. The study, which analyzed Y chromosomes in African and European men, suggests that natural selection has played a crucial role in maintaining the gene content on the Y chromosome.
The human Y chromosome contains unique genes that have likely been maintained by selection, suggesting it will stick around despite its small size. Genetic diversity on the Y chromosome is low, but researchers found that natural selection, particularly purifying selection, also contributed to this low diversity.
A new study compares the relative rate of molecular evolution between humans and chimps with that of their lice. The researchers found that the lice are winning the molecular evolutionary race, with almost 15 times more changes in gene sequence.
Researchers found that individuals with the Met/Met genotype of the COMT gene performed better in a simulated air-defense task than those without this genotype. The study suggests that matching training to individuals based on their cognitive abilities could be more important than other factors in personnel selection.
New research confirms Ardi's close evolutionary relationship to humans, revealing a pattern of similarity linking it to Australopithecus and modern humans. The study shows that the human cranial base pattern is at least a million years older than previously thought, with implications for our understanding of human evolution.
Researchers at the University of Melbourne have identified a genetic marker that signals increased susceptibility to emerging influenza strains. This breakthrough allows clinicians to develop early intervention strategies for high-risk patients.
Researchers at Karolinska Institutet have identified a new gene, GRHL3, responsible for the most common form of cleft lip and palate syndrome, Van der Woude syndrome. The study found that mutations in GRHL3 may be associated with an increased risk of clefts in non-syndromic cases.
The Neanderthal genome shows a long history of interbreeding among early humans in Europe and Asia, with an estimated 1.5-2.1% of modern non-African genomes tracing back to Neanderthals. The study also reveals Denisovan genes in modern human populations, particularly in Oceanic and Asian groups.
A Neanderthal DNA region associated with UV-light adaptation has been identified in up to 49% of Japanese and 66% of Southern Chinese populations. This region was positively selected and enriched in East Asians due to a population expansion event, suggesting higher levels of Neanderthal ancestry in the region.
A research team has discovered a second rare genetic mutation that strongly increases the risk of Alzheimer's disease in later life. The mutation is found in the Phospholipase D3 (PLD3) gene, which influences amyloid precursor protein processing and may be a potential therapeutic target.
Researchers at Virginia Commonwealth University have identified a key gene interaction that could be harnessed to treat various cancers. The study found that forced expression of MDA-7/IL-24 stimulates SARI expression in an autocrine/paracrine loop, causing cancer cells to undergo apoptosis.
A recent study has found that great white sharks have more similar proteins to humans than zebrafish, which challenges current understanding of their evolution. This discovery opens up new avenues for studying shark metabolism and biochemistry, potentially revealing insights into the biology of mammals as well.
Researchers at St. Jude Children's Research Hospital found avian H2N2 influenza A viruses from the 1957-1958 pandemic can infect human cells and spread among ferrets, posing a risk to those under 50 who lack immunity to the virus
A research team at the University of Bonn discovered a novel receptor that allows the immune system to recognize dangerous invaders and elicits an immune response. This receptor is found in Europeans but not in early men, suggesting it was inherited from Neanderthals.
Scientists found two human proteins, UPF1 and PCNA, that interact with a jumping gene called L1. The study reveals how these interactions affect the movement of L1 within the human genome, providing new insights into the regulation of this volatile DNA segment.
Researchers identified epigenetic disruption of a small non-coding RNA pathway as a hallmark for testicular tumor development. This aberration compromises the function of these RNAs, contributing to cellular transformation.