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 reveals that the pituitary gland in mice ages as a result of chronic inflammation, which can potentially be slowed down or partially repaired. The researchers found that stem cells in the ageing pituitary gland retain their regenerative capacity when taken out of an inflammatory environment.
African MERS-CoV strains show lower replication rates and virulence compared to Saudi Arabian strains. Spike protein differences contribute to the disparity, raising concerns about increased transmission and global outbreak risk.
Researchers found that puppies as young as 8 weeks old demonstrate social communication skills, such as following pointing gestures and engaging in eye contact. Genetics explain more than 40% of the variation in puppies' abilities, suggesting an innate capacity for human interaction.
Scientists have measured the mass of human chromosomes using X-rays for the first time, finding them to be significantly heavier than expected. The study's results suggest there may be unexplained excess mass in chromosomes, which could have important implications for understanding human health and diagnosing cancer.
A team of biologists has developed a new classification system for cell nuclei, revealing how species can switch between different nuclear types. The researchers discovered that mutations in a protein called condensin II can convert human cells into fly-like nuclei, and created a computer program to simulate the effects.
Researchers have mapped the genetic changes of malaria parasites in unprecedented detail, revealing new targets to block key stages in the parasite's development. This could lead to new ways to prevent transmission through future drugs or vaccines.
A new study from Clemson University identifies specific cell clusters in the brain of fruit flies affected by acute cocaine exposure. The findings show widespread changes in gene expression and distinct differences between males and females, potentially leading to therapeutic development.
Researchers discovered innate immune markers increased in frequency in modern people from a region that experienced the plague, suggesting these markers might have evolved to resist the disease. The study also found changes in allele distribution for immune-related genes, which could be evidence of past Yersinia pestis exposure.
A genetic study has identified two regions in the canine genome associated with a high risk of developing an aggressive form of hematological cancer, known as histiocytic sarcoma. The research, which combined multiple sequencing techniques, found that these regions account for 35% of the risk of the disease in flat-coated retrievers.
Researchers developed a gold leaf electrode system that sensitively detects human papillomavirus (HPV) DNA using CRISPR-based assay. The method is simple, affordable and adaptable to detect other viral infections, addressing a need for diagnostic tests in low-resource settings.
Researchers at Gladstone Institutes have adapted CRISPR-Cas9 technology to edit human monocytes, a type of white blood cell that plays key roles in the immune system. The study shows the potential utility of gene editing for understanding how the human immune system fights viruses and microbes.
Ancient DNA analysis reveals that Bronze Age migrations changed burial practices and kinship structures in Italy. The study found that Steppe-related ancestry arrived in Central Italy around 3,600 years ago, while Northern Italy received it around 4,000 years ago.
Scientists discovered that errors often occur when genetic material from each parent combines immediately after fertilization, leading to incorrect numbers of chromosomes. This process is surprisingly inefficient and can result in developmental defects and miscarriage.
The world's vast population of people, pets, and livestock has created an ideal environment for the evolution and transmission of zoonotic infectious diseases. To mitigate this threat, experts recommend using vaccination passports, maximizing genetic variation in livestock, and reducing animal protein consumption.
A study reveals significant epigenetic differences in the cerebellum of humans, chimpanzees, and monkeys, highlighting its importance in human brain evolution. The findings suggest that the cerebellum played a key role in the development of human culture, language, and tool use.
A new bonobo genome assembly has been created with high accuracy, allowing for precise comparisons to other great apes and humans. The study reveals over 5,500 structural variants that distinguish the bonobo and chimpanzee lineages, providing insights into gene evolution and species divergence.
Researchers discovered SARS-CoV-2 uses m6A modification to evade immune response, increasing viral replication and survival. Inhibiting METTL3 suppressed viral replication.
Researchers discovered that organisms like plants, fungi, and corals use gene conversion to inherit less mutated oDNA, unlike humans and animals which rely on a bottleneck process. This finding could have implications for crop plants where gene conversion can cause sterility.
An international team of scientists has identified 267 genes linked to creativity that differentiate Homo sapiens from Neanderthals, suggesting this genetic difference enabled humans to replace them. These genes are also associated with superior adaptation to the environment, resilience to ageing and disease, and greater physical fitness.
Researchers found that kiwi populations differ genetically between areas, but lack understanding of local adaptations and breeding changes. The study emphasizes the importance of strategic sample regimes and informative markers for developing effective conservation policies.
A new study identified 267 genes unique to modern humans that play a crucial role in creativity, self-awareness, cooperativeness, and healthy longevity. These genes are found only in Homo sapiens and not in Neanderthals or chimpanzees.
Researchers found that female mice with glioma lacking the POT1 gene survived less than males, leading to further investigation of human glioma cells. Low POT1 expression correlated with reduced survival in females, suggesting immune response and tumor cell proliferation played a role in tumor growth.
Researchers developed methods to recover, enrich and analyze archaic human nuclear DNA from cave sediments. This approach revealed new insights into Neanderthal population history, including a replacement event in northern Spain about 100,000 years ago.
The full assembly of human chromosome 8 has been completed, revealing novel genes and potential disease risks. The sequence fills in gaps missing from the current reference genome and provides new insights into immune disorders, brain development, and heart defects.
Researchers found that manual workers are twice as likely to develop ALS, with close to two-thirds of patients reporting a blue-collar job. The study also discovered that jobs involving sustained physical exertion, such as construction and carpentry, were associated with a higher risk of bulbar-onset ALS.
Researchers have identified the oldest reconstructed modern human genome, dating back around 2,000 years, from a fossil skull in Czechia. The study suggests that early modern humans did not successfully adapt to Europe, with a possible explanation being the Campanian Ignimbrite volcanic eruption.
Researchers at Tel Aviv University reconstructed the nutrition of stone age humans, finding they were specialized carnivores with a high-fat diet. The study used multiple lines of evidence, including genetics, metabolism, and archaeology, to conclude that humans evolved as apex predators for two million years.
A recent study published in PLOS Genetics has identified six genetic variants that add up to determine the risk of several blood cancers in pre-disposed dog breeds. The study found that dogs carrying five or more of these mutations had a very high risk of developing blood cancer during their lifetime.
The study proposes an alternative model where the effects of sex, genes, and environment are multiplied, not added, to account for complex interactions. This reveals consistent differences in average heights across countries and sexes.
Researchers found no evidence of interbreeding between modern humans and Denisovans in Island Southeast Asia, but confirmed high levels of Denisovan ancestry in the region. The study suggests that significant genetic exchange occurred between Denisovans and modern humans who arrived in Asia 50,000-60,000 years ago.
A large-scale genetic study has identified 50 new genes associated with human eye color, significantly expanding the current understanding of this complex trait. These findings will help improve diagnosis and treatment of eye diseases such as pigmentary glaucoma and ocular albinism.
A recent study found that chimpanzees have been reconnected for extended periods during the most recent maximal expansion of African forests, contrary to previous assumptions. The team's comprehensive sampling and use of rapidly-evolving genetic markers revealed genetic connectivity mirrors geographic distance and local factors.
Researchers have mapped 300 proteins that regulate cell division, a crucial step in cancer development, offering hope for tailored cancer treatments. The study provides new insights into cell-to-cell variation and the human cell cycle, with the data now available in the Human Protein Atlas.
A new study found that kittens with aEPEC bacteria can help understand the disease, and the researchers identified behavioral differences between healthy and sick kittens. The findings point to kittens as a potentially invaluable model for further exploration of aEPEC.
HSE researchers discovered a link between genetic predisposition and severe COVID-19 using machine learning models. The study found that individuals with effective T-cell immunity had lower risk scores, while those with weaker immunity scored higher.
A study found that the HAND2 gene becomes less active in humans as labor nears, suggesting it may play a role in regulating gestation length. The gene evolved to be turned on in uterine linings of placental mammals during pregnancy.
A team of researchers used a machine-learning approach to map the genetic and environmental connectivity of Aedes aegypti mosquitoes, a primary vector for diseases such as dengue fever and Zika. The study provides insights into the mosquito's adaptability to new landscapes and expanding range.
Researchers successfully extracted DNA from marine shells, revealing insights into the genetics of animal shrinking. The technique sheds light on how animals like lemurs and lizards adapt to human hunting pressure.
Researchers found that individuals without α-actinin-3 in their muscle fiber protein have slower-twitch muscle fibers, which provide better tolerance to low temperatures and energy efficiency. This mutation likely provided an evolutionary advantage in colder climates but may increase disease risk in modern society.
Researchers used CRISPR-Cas9 technology to introduce Neanderthal NOVA1 gene variants into human stem cells, generating brain organoids with altered neurodevelopment. The results showed slower development and increased surface complexity in the organoids.
Experts review current understanding of modern human ancestry tracing back to the distant past, identifying three key phases in human evolution. The study suggests that no specific point in time can be identified when modern human ancestry was confined to a limited birthplace.
A new, more complete dog reference genome has been built using DNA sequencing and annotation techniques. The improved genome will aid in understanding the link between DNA and disease in dogs and their human counterparts.
Analysis of human teeth from caves in southern China suggests that anatomically modern humans migrated from Africa around 65,000 to 45,000 years ago, contradicting earlier proposals of an early arrival. The study's findings highlight the importance of direct DNA analysis and carbon-14 dating for accurately estimating human remains' age.
A study published in eLife reveals that humans living in Cabo Verde adapted to malaria over just 500 years, with a genetic mutation spreading rapidly through the population. This finding provides evidence of recent genetic adaptation and highlights the impact of human migration on disease resistance.
A high-resolution 3D chromatin structure map of the macaque fetal brain has been constructed, revealing human-specific chromatin structural changes. These changes include 499 human-specific TADs and 1266 human-specific loops, which are enriched with enhancer-enhancer interactions.
Researchers have discovered a 19-amino acid insertion helix in the Orc4 subunit of yeast ORC that enables human-like DNA binding, transforming yeast into a humanized ORC. This finding provides new insights for cancer therapy and human development, including potential targets for anti-cancer drug screening.
Researchers at University of Missouri developed genetically modified mosquitoes resistant to Zika virus using CRISPR gene-editing technology. These 'suicide mosquitos' cannot transmit the disease and can interrupt the disease cycle, making them a potential solution for controlling the spread of Zika virus.
Dogs were likely domesticated from Eurasian wolves around 23,000 years ago, and later accompanied humans to the Americas. Genetic analysis suggests all ancient dogs belonged to a single haplogroup lineage, A2b, which is no longer found in the continent.
Researchers have discovered that Maltese patients with ALS do not have flaws in the C9orf72, SOD1, TARDBP, and FUS genes, which are common in European ALS cases. Instead, a higher percentage of Maltese patients without a family history of ALS have harmful DNA mutations in rarely damaged genes.
The study investigates the biodistribution of AAV gene transfer vectors in nonhuman primates using quantitative positron emission tomography (PET). The results show that both AAVrsh.10 and AAV9 vectors distribute primarily to the liver, with lesser detection in the brain after intravenous administration.
Researchers at UC San Diego and UCLA found that de novo mutations in tandem repeats are associated with autism spectrum disorders. The study analyzed 1,600 families and identified an average of 50 de novo mutations at tandem repeats in each child, regardless of whether they were affected by autism.
Scientists have created glowing probes to visualize four-stranded DNA in living cells, revealing its interaction with molecules and shedding light on its role in cancer and other diseases. The discovery opens up new avenues for research and potential drug development.
Researchers sequenced ancient DNA from dire wolf sub-fossils, showing they diverged from grey wolves over 5 million years ago. Dire wolves remained isolated in North America for millions of years, becoming genetically distinct from other canids.
Researchers have developed a method to detect Cas9 protein, a key component of CRISPR/Cas gene editing technology, in human plasma and mouse models. This breakthrough aims to identify athletes who may be using gene doping to gain an unfair advantage.
A new study combining archaeological work with genetic technology sheds light on the peopling of the Caribbean. The analysis of 263 ancient human genomes shows two major migratory waves in the region, revealing a highly mobile population with distant relatives often living on different islands.
Researchers at Cold Spring Harbor Laboratory discovered a protein called BLMP-1 that coordinates gene activity in response to environmental changes. The protein pauses development when nutrients are scarce and resumes it when conditions improve.
Scientists have created a global atlas of direct interactions between SARS-CoV-2 RNA and the human proteome, revealing 18 key host proteins involved in viral replication. The study also identified two crucial regulators, CNBP and LARP1, which can inhibit viral replication, offering new avenues for treatment.
Researchers identify large set of gene regulatory regions in the human brain that have undergone positive selection throughout evolution. These regions are believed to contribute to the development of cognitive abilities.
Researchers at the Ragon Institute have developed a new one-step CRISPR technique to rapidly create mice capable of producing human antibodies. The method dramatically shortens the timeline for generating specialized mice, allowing scientists to accelerate their research and respond more quickly to new developments in the field.
Researchers have discovered AAV capsid-promoter interactions in the non-human primate brain, which dictate cell-specific transgene expression. This finding has profound implications for vector design in gene therapy, challenging the traditional concept of the AAV capsid as a delivery truck.