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 at Florida State University have discovered a tumor suppressor protein in fruit flies that can help understand the development of malignant rhabdoid tumors in children. The protein, Snr1, was found to act as a tumor suppressor in an unconventional manner.
Researchers found that genetic makeup of social partners significantly impacts wound healing, anxiety, and body weight in mice. The study provides insights into the mechanisms of social genetic effects and their potential application to human health.
Researchers have quantified social genetic effects on over 100 phenotypes in laboratory mice, finding that up to 29% of variation is explained by the social environment.
Researchers have discovered a critical DNA sequence code, known as the human Initiator, that regulates over half of all human genes. This breakthrough provides insight into gene regulation and may lead to new discoveries in understanding how human genes are turned on and off.
Researchers at the University of Colorado Boulder have discovered a new broad-spectrum antiviral protein called Schlafen11 that can inhibit HIV-1 replication in non-human primate species. The protein's effectiveness is highest in chimpanzees and orangutans, but much lower in humans and gorillas.
Researchers at Tohoku University found that a mutant strain of fruit fly lacks the scribbler gene, rendering them unable to copulate. This impairment parallels the neural control of copulation in humans, where BMP signaling and serotonin regulation are crucial for sexual activity.
Researchers have turned to frog models to study the impact of early stressors on adult diseases, finding that a specific gene USH1g is highly expressed in response to stress. This study sheds light on the mechanisms behind fetal stress hormone effects on adult chronic diseases.
A study by Lund University researchers reveals that retroviruses in the human genome can affect gene expression, potentially contributing to brain development and neurological diseases. The viruses, known as endogenous retroviruses, can act as docking platforms for proteins like TRIM28, influencing protein production.
According to a new report from the USPSTF, nearly a quarter of reproductive-age women have sub-optimal folate levels, highlighting the importance of daily folic acid supplements. The FDA has also announced plans to fortify corn masa flour with folic acid, targeting Hispanic women at higher risk.
A recent study examining 1,600 instances of phenotypic change worldwide shows that urbanization is affecting the genetic makeup of species crucial to ecosystem health. The research highlights the importance of understanding human-induced trait changes and their implications for ecological and human well-being.
A study finds that Arctic Inuit and Native American cold adaptations originated from an extinct hominid population related to the Denisovans. The archaic variant of the TBX15/WARS2 region was introduced into modern humans during their expansion, potentially providing a unique adaptive trait.
Researchers found that a genetic mutation in protein NOD1 increases susceptibility to human cytomegalovirus (CMV) infection. Studies with human cells and mice showed decreased CMV replication when NOD1 was activated, suggesting a key role in controlling the virus.
A panel of experts discusses the potential risks and benefits of human genome editing for embryos, including cosmetic choices and long-term implications. They propose a balanced regulatory approach to oversee the technology.
Researchers analyzed genetic sequences of the virus and found specific mutations that occurred as it crossed the Pacific Ocean, suggesting new hypotheses for its association with microcephaly and GBS. The analysis also revealed potential relationships between viral infection and severe symptoms in adults and infants.
Genetic analysis of ancient DNA reveals that the evolution of smallpox occurred far more recently than previously believed, with all available strains having an ancestor no older than 1580. Researchers found two circulating strains of the virus, variola major and minor, after English physician Edward Jenner developed a vaccine in 1796.
A Chinese research group found that the Tibetan Mastiff's high-altitude adaptation is due to interbreeding with the Tibet grey wolf, introducing a DNA swap at two genomic hotspots. This process shares similarities with human evolution, highlighting ancient interbreeding as a key factor in adaptations.
The Cell Atlas is an open-access interactive database displaying high-resolution images of more than 12,000 proteins in cells. It provides spatial information on protein expression patterns at a fine subcellular level, revealing complex cellular architectures and single-cell variation.
Human cells produce RNAi molecules in response to influenza A virus infection, but a viral protein blocks this process. The study suggests that RNAi may also be active against Ebola, Marburg, and other RNA viruses.
A recent study published in Frontiers in Behavioral Neuroscience has found that mice with a genetic mutation similar to the one affecting human speech also have difficulty producing complex vocal patterns. The study suggests that the FOXP2 gene regulates not only human speech but also mouse vocal communication.
Researchers induced oxidative stress in cultured RPE cells to explore the development of age-related macular degeneration (AMD). Oxidative stress led to cell senescence and proliferation inhibition, highlighting its potential role in AMD progression. The study suggests antioxidants may be a new treatment approach for AMD intervention.
A new study in Science says climate change is impacting every aspect of life on Earth, including genes and entire ecosystems. The study found 80% of 94 ecological processes show signs of distress due to climate change.
A new study reveals that Neanderthal genes are being removed from the human genome at a rate of weak but widespread selection. The researchers found that the small population of Neanderthals mixing with modern humans led to inbreeding, causing genetic variants to persist and then be weeded out by natural selection.
A study published in PLOS Genetics found that natural selection removed weakly deleterious Neanderthal gene variants from the human genome, as they were more effective in larger human populations. This loss of Neanderthal ancestry is attributed to historical differences in population sizes between humans and Neanderthals.
Researchers have developed two new mouse models of amyotrophic lateral sclerosis (ALS) that exhibit protein clumping and display clinical features seen in patients. The models may help scientists better understand the disease and develop new treatments.
Researchers found patterns by which gut microbiome and its function interact with immune response, influencing cytokine production. The study identified interactions between pathogens, cytokines, and fatty acids on cytokine production.
A team of researchers discovered that a specific mutation in the telomere protein TPP1 causes an incurable premature aging disease called dyskeratosis congenita. The mutation compromises telomerase function, leading to stem cell division slowdowns and tissue breakdown. This breakthrough provides a potential drug target for the disease.
The study reveals a striking pattern of genome duplication in the African clawed frog, which arose through interspecific hybridizations between 15-20 million years ago. The research has significant implications for understanding human conditions and diseases, as well as applications in regenerative therapy.
The study found that 1% of chimpanzee genomes are derived from bonobos, indicating gene flow events between the species. This discovery has strong implications for chimpanzee conservation, enabling researchers to locate individual chimpanzees by their geographic origin.
A new whole-genome analysis reveals that chimpanzees and bonobos had a historical genetic flow, which sheds light on processes that may have played a recurring role in great ape evolution. The study found evidence of gene flow between the two species between 200-550 thousand years ago.
Researchers will analyze tissue samples from baboons to identify molecular mechanisms underlying early onset atherosclerosis. The study may lead to the development of early diagnostics and interventions, potentially saving millions of lives by treating the disease in its early stages.
Researchers discovered that cytomegalovirus (CMV) hijacks the molecular machinery in human cells to survive and replicate, relying on the human protein CPEB1. Suppressing CPEB1 levels during CMV infection reverses harmful cellular changes and reduces viral production tenfold.
A study published in Journal of Anatomy found a connection between certain bat species and humans with cleft lip and palate. Researchers used anatomical dissection, micro CT scans, and genomic analysis to identify the genetic causes of clefts.
A new estimator developed by geneticists suggests that the population in Africa was likely 50% larger than previously thought and that an archaic-modern human separation date of 440,000 years ago is the best fit. The study also found that ancient populations interbred less than previously believed throughout Eurasia.
Researchers discovered that Zika virus infection leads to modifications of both viral and human genetic material, including the addition of methyl groups. This alteration affects viral replication and the human immune response, highlighting the importance of methylation in vaccine and therapy development.
New research reveals that human transport has a significant impact on the genetics of marine species, disrupting natural patterns and leading to unexpected consequences. The study found a mosaic of genetic patterns in a native invertebrate species, suggesting that anthropogenic activities are altering genetic composition in native ranges.
Researchers found that the cutting of tau by caspase-2 may play a critical role in the disordered brain circuit function of tauopathies. Blocking caspase-2 activity restored some learning and memory deficits in animal models, suggesting reversible cognitive loss.
The study highlights the risks of human presence on endangered ape populations, including disease transmission and habitat destruction. To mitigate these threats, Schultz proposes improving protocols and regulations for ecotourism and promoting understanding of interspecies disease transmission as a conservation threat.
The Fonni's Dog genome study sheds light on the history of Sardinia's fiercely protective canine breed, tracing its development through unregulated selection for behavior. The research also highlights the potential of isolated dog breeds as a powerful resource for finding genes that influence health and behavior.
Researchers removed single neurons from fruit fly embryos to gain insight into gene expression control in developing brain networks. The study identified B52, a protein linked to acetylcholine production, and its disruption may cause severe mental problems.
The tarsier genome analysis confirms that tarsiers belong to the dry-nosed primate category, sharing recent transposon families with humans and bushbabies. The study also identified 192 genes linked to the tarsiers' unique traits, which may be associated with human diseases.
Einstein researchers conclude that the maximum human lifespan has already been reached at 115 years, with a possible limit of 125 years. This finding suggests that further advances in medicine may not extend human lifespan beyond this point.
The UT Southwestern Medical Center has transferred nearly 175,000 induced germline mouse mutations to the NIH-supported Mutant Mouse Resource and Research Centers, significantly increasing their availability for researchers worldwide. These mutations are critical for supporting genetic research in all mammals, including humans.
Fruit fly research sheds light on human diabetes, revealing insulin signaling mechanisms and potential new treatments for the disease. The study's findings have implications for understanding and addressing type 2 diabetes.
A recent archaeological analysis has found that early settlers of Tonga and Vanuatu originated from Melanesia, challenging the long-held assumption about the colonization of the region. The research team's findings point to a previously unknown migration wave from the Solomon Islands chain.
Scientists at CNIO deconstructed alternative splicing as a source of protein production, finding it secondary to gene dominance. The study reveals that most human genes produce a single dominant protein, calling for rethinking biological innovation.
Researchers found that genetic clustering of southern African populations is closely tied to the ecogeography of the Kalahari Desert region. The study analyzed genome-wide data from 21 KhoeSan groups and identified five primary ancestries, suggesting a geographically complex set of migration events.
A landmark twin study has identified moderate to strong genetic contributions to the volume of cortical and subcortical brain structures in people over 65. The research found that specific brain regions, such as the hippocampus, have high genetic influences, while others show unique genetic determinants.
A Case Western Reserve University researcher proposes a framework to address ethical questions surrounding potentially revolutionary research on part-human, part-animal embryos. The researcher suggests prioritizing animal welfare while enabling scientific progress in areas of biomedical importance.
A recent study reconstructs the history of human migration to the Tibetan Plateau and discusses possible mechanisms involved. Humans first arrived in the Northeastern Tibetan Plateau from the adjacent Western Loess Plateau via the He-Huang Valley, spreading southwards over four stages.
Researchers developed a non-invasive MRI-based method to quantify dermal fat, total WAT volume and BAT activation in mice and humans. Studies showed that dWAT thickness was highly variable between subjects and increased in genetically obese mice and those fed high-fat diets.
Researchers devise a way to record analog memories in human cells by using CRISPR and self-targeting guide RNA strands. This allows them to track biological events such as inflammation or infection and monitor cell differentiation into various tissues during development.
Scientists have engineered Geobacter bacteria to produce extremely thin nanowires that are thousands of times thinner than a human hair, and are made from non-toxic natural proteins. The resulting wires can be used in medical sensors, military applications, and other electronic devices.
Researchers identified GALNT2 gene as a regulator of HDL-C levels through its effects on phospholipid transfer protein (PLTP) function. The study found that humans, mice, and rats lacking GALNT2 had low HDL levels compared to models with normal GALNT2 function.
Researchers at MDI Biological Laboratory decipher genetic code controlling limb regeneration in zebrafish, axolotl, and bichir, revealing common genetic regulators. The discovery may lead to new therapies for wound healing and prosthetic device development, but a timeline for regrowing limbs remains uncertain due to funding constraints.
Researchers identified 930 genes associated with excessive drinking behavior in genetically diverse rats, indicating a complex trait influenced by many genes and the environment. The study confirmed previously linked genes and uncovered new genetic pathways, some of which could be targets for treatment.
A study published in PLOS Genetics has identified hundreds of genes associated with alcohol preference in rats, suggesting a strong genetic component to alcoholism. The research found that critical regulatory pathways involving several genes were crucial in regulating the desire to drink alcohol.
A genetic mutation in modern humans may have allowed them to effectively process toxic compounds produced by fires, potentially giving them an evolutionary edge. This mutation is thought to be linked to the aryl hydrocarbon receptor and may have helped humans adapt to environmental toxin exposures.
Research reveals green monkeys in The Gambia acquired S. aureus strains from humans, with most recent transmissions occurring three decades and seven years ago. Strains that jumped between species lost genes for human adaptation.
Researchers found that green monkeys in The Gambia acquired Staphylococcus aureus strains from humans through contact with contaminated food. The bacteria adaptation process was observed as strains lost genes associated with human adaptation, highlighting the risk of pathogen transmission.
The Human SRMAtlas provides highly specific mass spectrometry assays for targeted identification and reproducible quantification of any human protein. This resource enables the measurement of 99.7% of the annotated human proteins, revolutionizing systems-level understanding of physiology and disease.