Articles tagged with Alleles
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.
A new study in mice reveals that the timing of gene mutation during thalamus development significantly affects TSC-like behavioral symptoms and disease severity. The research highlights the importance of the thalamus in brain function and suggests a potential target for future treatments.
A recent study by Ohio State University researchers explains how certain plant traits can be passed down through generations without following traditional genetic rules. They discovered an enzyme in corn that targets 'junk DNA' and triggers unexpected changes in gene activity, an example of epigenetics.
A new study at Brown University found that the 'selfish' segregation distorter (SD) gene can manipulate meiosis to eliminate defective sperm, while a policing system tries to suppress it. The research deepens understanding of how life can violate fundamental genetic principles.
A dopamine-receptor gene variant is associated with living a longer life, according to a study led by UC Irvine and Brookhaven researchers. The variant, DRD4 7R allele, blunts dopamine signaling and enhances individuals' reactivity to their environment.
A large-scale study on newborn screening for fragile X syndrome reveals the high prevalence of the premutation allele among carriers. The research identifies one in 209 females and one in 430 males with the premutation, highlighting the need for better understanding of its impact on families and systems.
A recent study found that Magellanic penguins' high genetic variation in the MHC genome region is maintained by balancing selection, which favors heterozygous individuals with increased fitness. The study tested whether mate choice or genetic selection based on disease exposure drives this diversity.
Researchers developed a statistical method using phylogenetics to enhance GWAS studies, improving reliability and identifying consistently reproducible alleles. The new approach enhances personalized medicine by pinpointing reliable mutation correlates of complex diseases.
A geneticist has developed a technique to test the functional differences of human gene variants using yeast cells. This method identified 37% of alleles associated with vitamin B6 supplementation for treating homocystinuria, a metabolic disease causing blood clots and mental retardation.
Promiscuous queen bees on Hainan Island and other locations keep their colonies healthy by maintaining a diverse gene pool. By mating with multiple males, they ensure the combination of complementary sex determination genes is kept diverse.
A new point-of-care genetic test identifies CYP2C19*2 allele, a common variant associated with increased risk of major adverse events. The test enables personalized dual antiplatelet treatment, reducing complications and improving outcomes for patients after coronary interventions.
Researchers at UNC may have found a way to awaken the dormant allele of Ube3a, leading to potential treatments for Angelman syndrome. The team used FDA-approved drugs like irinotecan and topotecan to 'awaken' the paternal allele, resulting in functional protein expression.
Researchers at UC Davis found a genetic variant associated with autoantibodies in pregnant women that may increase their child's risk of developing autism. The study suggests a potential screening test for women at risk of having an autistic child, offering new hope for early intervention and prevention.
A new study found that children with thinner parents are three times more likely to be thin, with a strong association between parental and child body size. Children of thinner parents were more likely to have the 'skinny' genes, increasing their chances of being naturally thinner.
A new mathematical model evaluates microsatellite genotyping reliability from degraded DNA templates, enabling reliable genetic information from non-invasive samples. The approach reduces false results and optimizes experimental protocols.
Researchers found that female birds choose partners based on their genetic compatibility, specifically high MHC gene diversity, rather than physical attractiveness. This study provides the first experimental evidence for MHC-dependent mate preference in birds.
Researchers discovered that butterflies colonizing new habitats have distinct genetic traits, including faster egg maturation, higher energy metabolism, and superior flight ability. These traits provide an advantage for exploring new areas, potentially leading to the establishment of new populations.
A study found that older adults with the APOE ε4 allele who reside in psychosocially hazardous neighborhoods exhibit poorer cognitive performance in various domains, including processing speed and executive function. The presence of APOE ε4 alleles in African American populations also showed a significant impact on cognitive function.
A study found that individuals with a specific gene variant associated with ADHD show increased interference from mind-wandering brain regions during mental tasks. This suggests that the gene may contribute to inattention symptoms, but not hyperactivity.
A meta-analysis of nine studies found that patients with common genetic variants of the CYP2C19 gene and taking clopidogrel for cardiac procedures are at increased risk of major adverse cardiovascular events, including blood clots in stents. The study suggests that individualized treatment regimens may be needed to tailor therapy.
Four common genetic variants of the PRKCB1 gene are associated with development of end-stage renal disease in Chinese patients with type 2 diabetes. The likelihood for ESRD increased with a greater number of risk alleles, with an adjusted risk six times higher for patients with 4 risk alleles compared to those with 0 or 1.
Researchers found that children with a specific serotonin transporter gene variant are more likely to exhibit psychopathic traits if they grow up poor. These traits include lack of empathy, arrogance, and deceitfulness. The study suggests that socioeconomic environment influences the expression of this genetic trait.
A study of Rwandan genocide survivors found that genetic variations in the catechol-O-methyltransferase (COMT) gene affect PTSD risk. Survivors with certain genetic markers showed increased resilience to stress-related problems, while others were more vulnerable. The findings provide new insights into the complex relationship between t...
A recent study found a connection between genetic variations of the NRF2 gene and endurance performance. Elite endurance athletes had higher frequencies of specific genetic variants compared to elite sprinters, suggesting that these variations might contribute to their endurance abilities.
The ADH1B*47His allele, causing an unpleasant response to alcohol, emerged around 10,000-7,000 years ago with rice domestication in southern China. This genetic adaptation may help protect against alcoholism and organ damage.
A study found a significant association between a polymorphism of the µ-opioid receptor (OPRM1) gene and alcohol misuse among adolescents. The G allele variant was associated with increased sensitivity to the pleasurable effects of alcohol, leading to more frequent drinking and problems.
Scientists have discovered a gene behind malaria-resistant mosquitoes, which could lead to new tools for controlling malaria transmission in endemic areas. The study found that a single section of one chromosome contains a gene called TEP1 that promotes the killing of malaria parasites in mosquitoes.
Researchers at Cornell University have discovered an unusual form of a gene that prompts ewes to breed out of season and conceive at younger ages. The M allele gene, which has been correlated with out-of-season fertility, may be a boon for the sheep industry worldwide when combined with the STAR system.
Researchers at UBC found a mutant gene in freshwater sticklebacks that drives their tendency to relocate instead of adapting to new environments. This 'wanderlust gene' is associated with the loss of bony lateral plates and affects salinity tolerance.
Researchers estimated the probability of male carriers having a child with Huntington's disease, finding it ranges from 1/6,241 to 1/951. This estimate provides a baseline for genetic counselors and high normal allele carriers for family planning.
A new study found that all HLA-DRB1 shared epitope alleles strongly interact with smoking in conferring an increased risk of ACPA-positive RA. Smoking is identified as the main risk factor for developing rheumatoid arthritis, with a strong gene-environment interaction observed.
Researchers have found that RAG-1 mediated cleavage occurs on one allele at a time during V(D)J recombination, ensuring allelic exclusion. This process is crucial in preventing translocations, a common underlying mechanism for leukemias and lymphomas.
Researchers have identified a genetic marker associated with an earlier onset of prostate cancer in high-risk men. The Met160Val SNP is linked to a 2.5-fold increased risk of developing prostate cancer, and carriers are more likely to develop the disease earlier.
A DNA study confirms that Native Americans and Greenlanders share a common ancestral population, with the '9-repeat allele' present in all Native American populations and absent in other Asian groups. This evidence supports the single ancestral population theory, ruling out multiple mutations and natural selection hypotheses.
Researchers found that a significant amount of inbreeding depression is due to key genes affecting other genes, particularly those involved in metabolism and stress. The study also identified distinct gene expression changes across different chromosome regions, suggesting a complex interplay between genetic mechanisms.
Researchers from Thomas Jefferson University reported that IDO2 enzyme is overexpressed in pancreatic cancer cells, potentially leading to targeted immunotherapy. Genetic analysis revealed that about 75% of patients have an active IDO2 enzyme, suggesting a novel therapeutic strategy.
Research finds that specific DNA sequence variations of the serotonin transporter gene can influence drinking intensity among alcohol-dependent individuals. The study analyzed six single nucleotide polymorphisms and found a significant association between one particular variation and lower drinking intensity.
Purdue University researchers are working on a new technique called MAGIC to identify gene combinations that increase disease resistance and stress tolerance in crops. By analyzing the genetic diversity of maize, they aim to engineer plants that can withstand most diseases and improve crop yields.
Research published in PathoGenetics reveals that one mutated SMAD4 allele is associated with gastrointestinal polyps and cancer development. This study highlights the importance of dosage in tumor suppressor genes, challenging the conventional understanding of gene mutations and disease phenotypes.
A study by Maatouk et al. reveals that DICER1 is required for normal spermatogenesis in mice, with defects leading to functionally abnormal sperm. Meanwhile, Morgan et al.'s research on mouse embryos demonstrates the impact of culture conditions on epigenetic regulation and adult health.
Research found that a specific gene variation associated with pair-bonding in voles also affects human males, leading to weaker relationships and increased marital problems. Women married to men carrying the variant reported lower marital quality without lower satisfaction.
Researchers found that people carrying a specific gene variation are more prone to anxiety and have an exaggerated startle reflex in response to unpleasant pictures. This suggests that genetic differences may play a role in regulating emotional arousal and contributing to anxiety disorders.
Paramutations, a process where one copy of a gene can alter the expression of another, have been found in plants and may be important for introducing changes under environmental stress. Researchers studying paramutations in maize identified genes and mechanisms involved in this epigenetic process.
A study led by Florida State University has found that the APOE epsilon 4 allele is a risk factor for African-Americans as well as whites. The gene increases the risk of cognitive decline and dementia in both populations. Researchers hope to develop medicines that slow or prevent Alzheimer's disease using this newfound understanding.
A study by researchers from UWM found that a specific version of the DRD4 gene appears to have different effects depending on one's environment. In nomadic Ariaal men with the 7R allele variant, this gene is linked to better health and nourishment.
A USC study found that genetic variants of FTO and Arachidonate 5-Lipoxygenase (5-LO) are associated with higher triglyceride levels and lower HDL cholesterol in Mexican-American participants. The study suggests that these genetic interactions may play a vital role in the development of disease, particularly diabetes.
Researchers identified the HLA-DRB1 gene as a predictor of premature death from cardiovascular disease in inflammatory arthritis patients. The study found that having two copies of the shared epitope allele increased the risk of death from all causes and cardiovascular disease, particularly among current smokers.
A team of scientists has developed an economical approach to breeding maize with higher provitamin A levels, which can combat vitamin A deficiency. By identifying a naturally mutated enzyme, they can now inexpensively screen different varieties and breed those that contain it.
A research team proposes that sexual conflict can establish novel sex-determination genes and sex chromosomes, explaining their rapid evolution. The model suggests that genes with sexually antagonistic effects and mutations influencing sex determination are common in nature.
A large study found that healthy individuals with schizophrenia risk alleles had minute decrements in cognitive ability and altered schizotypal beliefs, highlighting the genetic liability to psychosis expressed at the population level.
A study found a gene variant associated with thinner brain tissue in areas handling attention, but also better clinical outcomes among individuals with ADHD. The 7-repeat form of the dopamine D4 receptor gene was linked to improved symptoms and regained brain thickness in affected individuals.
A study associates DRB1 shared epitope genotypes with increased risk of death in RA patients, particularly those who died young without clinical evidence of heart disease, highlighting the importance of genetic factors on mortality
A new study has found that the ADH1B*3 allele appears to protect against alcoholism in Afro-Trinidadians, while increasing the risk for liver disease among those who drink heavily. Individuals with this allele have lower alcohol consumption levels and are less likely to be alcohol-dependent.
A recent study published in Archives of Ophthalmology found that genetic predisposition and exposure to modifiable risk factors significantly multiply the risk for age-related macular degeneration (AMD). Individuals with two mutated alleles of genes CFH and LOC387715 were 50 times more likely to develop AMD.
A study found that individuals with a G allele of the mu-opioid receptor gene crave alcohol more than those with the A allele. This genetic marker may be related to how much a person craves alcohol in high-risk situations, potentially affecting treatment options.
A large-scale reverse genetic screen has identified complex haploinsufficient interactions in S. cerevisiae, revealing a significant number of genes that interact with actin.
Researchers have unraveled the evolution of the csd gene in honey bees, which determines gender. The study's findings could aid in designing better breeding strategies to avoid sterile males.
Researchers found that children from supportive families had a reduced risk for depression, while those from emotionally cold homes were at greater risk. The study suggests that environmental factors can regulate biology and steer the effects of genetic predispositions.
A genetic variant in the SERPINH1 gene has been identified as a potential cause of premature delivery in African-American women. The variant reduces collagen production, making membranes more prone to rupture. This discovery may help physicians identify high-risk patients and prevent serious pregnancy complications.
Scientists have discovered that an enzyme called RNA-dependent RNA polymerase is needed for paramutation, a phenomenon where one version of a gene can order another to act differently. This finding has significant implications for breeding better crop plants and unraveling complex genetic diseases, including some human health conditions.
Research found that middle-aged adults with a genetic risk factor for Alzheimer's develop lower levels of A42 protein in their spinal fluid. This could provide an early clue to the development of Alzheimer's, allowing for potential prevention and treatment strategies.