Articles tagged with Alleles
Researchers at Niigata University conducted the first comprehensive reappraisal of Alzheimer's disease risk in Japanese APOE-e4 homozygotes, finding a substantially lower risk than previously cited estimates. The study suggests that the risk is comparable to estimates reported in large studies of people with European ancestry.
Researchers found that close to half of all dementia cases would not arise without the APOE gene's influence, and potentially more than 90% of Alzheimer's disease cases are linked to variants in this single gene. The study highlights the APOE gene as a powerful target for drug development.
Scientists have identified a brain molecule called NEAT1 that appears to play a central role in triggering light sensitivity (photophobia) during migraines. By disrupting the normal balance of nerve signaling and pain regulation, NEAT1 makes nerves more sensitive to light.
The study identified over 34,000 genomic regions with distinct ON/OFF methylation patterns, including novel imprinted regions and tissue-specific variability. This atlas provides valuable insights into epigenetic regulation and may help explain the inheritance patterns of genetic diseases such as CHARGE syndrome.
A six-year study examining 38 clinical isolates of Cryptococcus found genes and gene alleles associated with disease severity. The research aims to develop new treatments targeting these genetic variations, predicting disease outcomes and improving patient care.
A new study reveals insights into leveraging allele dosages in sweetpotato breeding practices to improve key agricultural traits. Researchers found that differences in allele dosage significantly impact root weight, plant architecture, and flesh color.
Researchers found that Florida panthers are not at increased risk for contracting chronic wasting disease from eating infected deer. The study provides relief to conservation efforts, as the disease has spread through North America's deer and elk populations.
Researchers found specific gene mutations in barley affect starch synthesis, forming elongated starch granules with altered properties. Mutations disrupt enzymes, altering glucose chain formation and branching.
A study found that HLA-DRB1*01:03 is associated with severe ulcerative colitis, requiring major operations and systemic corticosteroid use. The allele has previously been linked to ulcerative colitis incidence, supporting earlier genetic studies.
A noncoding gene has been identified as the deciding factor in determining sex in Argentine ants, with a specific genomic region being crucial to this process. The gene does not encode a protein but rather produces an RNA that influences sex determination.
Researchers found that widely used machine learning tools produce biased results for immunotherapy research, as they rely heavily on datasets from higher-income communities. This can lead to ineffective treatments for lower-income populations. The study highlights the need for accurate and unbiased data in machine learning models.
The study found that APOE4 carriers have elevated LDL cholesterol levels, increasing their risk of developing subclinical atherosclerosis. In contrast, APOE2 carriers have lower cholesterol and reduced atherosclerosis prevalence.
A study by Max Planck researchers has discovered an epigenetic regulator MSL2 that ensures the expression of both alleles of haploinsufficient genes, crucial for human health. This mechanism allows for tissue- and cell-type specificity in gene dosage, opening new directions for understanding diseases and developing potential treatments.
A study published in Oncotarget reveals that HER2 mutant alleles play a crucial role in determining treatment response to neratinib and poziotinib. Researchers found that individual HER2 mutant alleles have distinct effects on therapeutic efficacy, suggesting new targets for breast cancer therapy.
Researchers found evidence of separate domestication events for Asian rice in different areas, with wild rice species O. rufipogon and O. nivara contributing to the genetic pool. The study provides a new framework for understanding the evolutionary history of domesticated rice.
Researchers found that higher selenium levels were associated with lower blood pressure and HDL concentration in middle-aged women. The study suggests that selenium may moderate the effect of genetic variants on MetS components, such as waist circumference.
Researchers have identified three novel pathogenic variants of the ATR gene as predisposing to male breast cancer. These variants were found in a cohort of individuals with early onset and familial breast cancers, using a combination of exome sequencing and functional investigations. The study suggests that extended genetic analysis ca...
A study found that an allele of the HLA Class 1 gene may protect individuals from severe COVID-19. The researchers compared the immune systems of patients in different waves of the pandemic and discovered a link between the HLA-A*01:01 allele and effective T-cell immunity against new variants.
A study found that individuals with the HLA-A*01:01 allele have developed robust T-cell immunity to COVID-19, suggesting a genetic predisposition to severe forms of the disease. The allele is more common in patients with mild or asymptomatic COVID-19.
Researchers identified the molecular mechanism underlying Weiss-Kruszka syndrome, a rare neurodevelopmental disorder characterized by craniofacial anomalies and autistic features. The study reveals that the ZFP462 gene mutation leads to a failure to safeguard neural lineage specification during early embryonic development.
Researchers examined associations between APOE ε2 and ε4 alleles, polygenic profiles, and Alzheimer's disease biomarkers. They found links between ε4 alleles with plasma and CSF Aβ42 and CSF tau, as well as differences in associations with tau and Aβ42.
A simple breeding experiment identified genes that promote cooperation and higher yields in plant populations. Plants with specific alleles were found to produce 15% more biomass when grown in close proximity, while reducing root competition.
Researchers found evidence supporting a new theory on how chromosome recombination is regulated during sexual reproduction. By manipulating protein expressions in the model plant Arabidopsis thaliana, they discovered that boosting HEI10 levels significantly increased crossovers, while disrupting ZYP1 expression had a similar effect.
A new study published in The Crop Journal has identified the gl9 gene variant as a key factor in increasing grain size and reducing chalkiness in rice. By introducing this allele into elite rice varieties, scientists have improved grain length, width, and weight, leading to enhanced appearance quality and yield.
Researchers at UCF have identified 116 new gene variants in sea turtles that may protect them from a tumor-causing disease. The discovery sheds light on the role of MHC class I alleles in potentially safeguarding sea turtles against fibropapillomatosis.
Researchers collected hundreds of cerebrospinal fluid samples from patients with Diffuse Midline Glioma, tracking changes in cell-free tumor DNA over time. The findings suggest that this method could provide data about tumors sooner than MRIs alone, allowing clinicians to address aggressive brain cancer more effectively.
Researchers have identified a key gene that confers stripe rust resistance in bread wheat, providing hope for improving crop yields and ensuring global food security. The discovery was made possible by the assembly of the highest-quality genome to date for bread wheat using advanced DNA sequencing techniques.
University of Illinois researchers found a key gene responsible for increasing soybean protein content by approximately 2%. The discovery could lead to significant increases in protein production, addressing global food security issues. However, the gene's function is unclear and may involve the plant's circadian machinery.
Researchers found that non-mutated Apolipoprotein E was strongly enriched in dementia patients' brains, correlating with dementia diagnosis. Even those without the disease-driving APOE ε4 allele showed significant levels of ApoE peptides.
Researchers at the University of California San Diego have developed a method to reverse insecticide resistance in mosquitoes using CRISPR/Cas9 technology. By replacing an insecticide-resistant gene with its susceptible counterpart, they have successfully restored genetic susceptibility to these chemicals.
A study at the University of Helsinki found that the APOE4 allele may increase cerebral microhaemorrhages and mental fatigue in COVID-19 patients. The risk of developing severe COVID-19 more than doubled in carriers of this allele.
A new study identifies 13 genes as key factors in shaping physical fitness through various forms of exercise. Genetic differences account for up to 72% of the variation in muscle strength improvements.
A randomized trial found that a shorter course of rifapentine-isoniazid therapy resulted in significantly higher treatment completion rates compared to a longer daily course. The findings suggest that this regimens can be more effective for preventing tuberculosis disease in individuals with HIV, particularly in high-transmission areas.
Researchers have discovered that naturally occurring variants in yeast can suppress harmful mutations, potentially contributing to genetic diseases like cancer. The study found that 26% of harmful mutations were suppressed by a single 'rescue mutation' in wild yeast strains.
Genetic resequencing reveals Sudanese Kordofan melon as closest relative to domesticated watermelon, potentially a precursor. Pulp bitterness and sweetness likely altered over time through artificial selection.
SSRgenotyper is a free bioinformatic tool that digitally genotypes sequenced populations using simple sequence repeats. The tool reduces the time and work required for genotype analysis and solves the transferability problem inherent in electrophoresis estimates.
A new study found that a mitochondrial gene variant increases the risk of Type 2 diabetes in Japanese men, particularly in sedentary individuals. Exercise was shown to mitigate this risk, highlighting the importance of physical activity in preventing the disease.
A genome-wide association study identified a significant signal from the human leukocyte antigen (HLA) region on chromosome 6, specifically the HLA-B *55:01 allele, associated with a 33% higher relative odds of penicillin allergy. This finding is based on self-reported data and electronic health records of over 1 million individuals.
A genome-wide association study identified a locus in the HLA-B gene associated with penicillin allergy, with carriers having a 33% higher relative odds. The study also detected a variant in the PTPN22 gene linked to autoimmune diseases and drug-induced liver injury.
A study on parasitic gene elements in yeast found that they can persist in populations despite harming hosts. Meiotic drivers confer disadvantages to their host, but other genes help suppress this effect at a cost to fitness.
A study by University of Tsukuba researchers found that patients with long stretches of repeat DNA sequences in the FLI1 gene are more likely to develop systemic sclerosis. The study suggests that these genetic variations may disrupt FLI1 expression, contributing to the disease's pathogenesis.
A recent study by Max Planck Institute researchers used stem cells and organoids to analyze the role of Neandertal DNA in human development. The team found that archaic DNA is present in nearly all modern humans outside Africa, with certain genes associated with skin and hair color being highly prevalent in Europeans.
Researchers have developed a fast CRISPR system that reduces cleavage time from hours to seconds, allowing for high-resolution DNA repair studies and single allele-level genetic editing. The technique uses light-sensitive nucleotides to control Cas9's action, enabling precise control over the editing process.
A study led by the University of Plymouth found that sea snakes' vision has been modifying genetically over millions of generations, enabling them to adapt to new environments. The research reveals that diving sea snakes share their adaptive properties with some fruit-eating primates.
A study found that individual mammalian cells in a population fail to respond synchronously to estrogen stimulation, neither do individual gene copies. However, a small molecule inhibitor increased the response of individual alleles to hormone, establishing a previously unrecognized mode of regulation at the single cell level.
Researchers at UC Santa Cruz have worked out the details of key molecular interactions involved in antigen selection and processing by MHC-I proteins. The new findings help explain puzzling differences among MHC-I proteins and suggest ways to manipulate them for diagnostic and therapeutic applications.
A new genomics method, ANEVA-DOT, can identify disease-causing genes in patients with rare muscular dystrophies. The technique compares maternal and paternal allele activity levels across the genome to detect abnormalities.
Researchers found distinct shifts in fruit fly genomes after feeding them different bacteria, racking up significant genomic changes. The study suggests that microbial community composition drives part of how organisms evolve.
A study found that individuals carrying the APOE4 allele, present in 15% of the population, showed lower IQ scores during childhood and adolescence. These findings suggest that the gene may impact cognitive health as early as age 6½ and become increasingly detrimental with aging.
Researchers have identified a single gene variation responsible for non-male-producing (NMP) trait in Daphnia, a type of planktonic crustacean. The discovery sheds new light on the species' unique reproductive strategies and could lead to innovations in fertility treatment or pest management.
Inbred Isle Royale wolves have fewer harmful genes than expected, with a higher proportion of paired recessive alleles. This discovery has broader implications for conservation efforts, suggesting individuals from smaller populations may be more beneficial due to fewer potentially harmful alleles.
Researchers developed a video game to study spatial orientation and navigational abilities, finding that virtual navigation performance is comparable to the real world. The game was played by 4 million people and showed changes in navigational habits before clinical Alzheimer's symptoms appear.
Scientists at UC San Diego developed a new CRISPR-based 'allelic drive' to selectively swap genetic variants, allowing precise editing of specific traits in populations. The technology has potential applications in agricultural pests, disease-carrying insects, and conservation efforts.
A researcher at Children's National Hospital has received a $2 million NIH grant to study new approaches to treating kidney disease linked to the APOL1 risk allele. The team plans to use a Drosophila model to identify potential therapeutic targets and test compounds for effective treatment.
A study by Leibniz Institute of Plant Genetics and Crop Plant Research has identified the GNI-A1 gene as a key player in regulating floret fertility in wheat. The gene's reduced-function allele was found to increase fertile florets, leading to higher grain counts and yields.
Scientists have discovered red wolf genes in canids on Galveston Island, providing a potential reservoir for bolstering the North Carolina population. This finding is significant as it suggests that genetics from endangered species can be conserved through hybridization.
Researchers discovered an East African pastoralist's introduction of the light skin allele to KhoeSan populations around 2,000 years ago. The allele underwent strong positive selection, resulting in the observed high frequencies of light skin pigmentation among the KhoeSan.
Researchers have identified a gene variant linked to chronic pain after traumatic injury, specifically the FKBP5 gene, which regulates the stress response and is affected by microRNA miR-320a. Individuals with this variant are more likely to experience increased pain due to altered cortisol levels and nerve sensitization.
Researchers at Tohoku University have identified a key gene responsible for deepwater rice's ability to thrive in flood conditions. The SD1 gene enables the plant to increase its height and accumulate ethylene, allowing it to ride out lengthy floods.
Researchers found that negative selection does not eliminate nonsense mutations entirely, but rather has a slight impact on some genes. They also discovered that alternative splicing allows some genes to preserve their functions despite the presence of nonsense mutations.