Articles tagged with Genomic Regions
A large-scale genetic study has associated nine new genetic regions with primary sclerosing cholangitis (PSC), a rare autoimmune liver disease. The study definitively proves PSC is a distinct disease, despite its genetic relationship to inflammatory bowel disease (IBD).
Scientists identify genes involved in cholesterol metabolism and cardiovascular disease risk by selectively decreasing gene expression using RNA interference. The study provides a new approach for understanding the mechanisms of cardiovascular disease and improving its prediction and diagnosis.
Brown University researchers discovered that as cells age, their ability to defend against parasitic strands of genetic material called transposable elements deteriorates. This breakdown allows the newly freed transposons to take full advantage, potentially leading to a decline in cell function and health.
Researchers have identified four new regions on the human genome linked to Behcet's disease, which is characterized by inflammation of blood vessels and potential blindness. The study provides insights into genetic factors contributing to the disease and suggests new therapies for treatment.
A recent study published in Cell reveals that genetic mutations in 'hotspots' are more frequent in genes linked to autism and other disorders, providing new insights into their causes. Researchers found that these regions exhibit higher mutation rates, potentially leading to disruptions in gene function.
A new Australian study finds that large regions of the genome are epigenetically activated in prostate cancer, including genes like PSA and PCA3. The study also identifies 'epigenetic master controllers' that can switch on or off large regions of DNA, with significant implications for cancer diagnosis and treatment.
A team of researchers has successfully mapped the barley genome, unlocking potential for higher yields, improved pest resistance, and enhanced nutritional value. The breakthrough, supported by USDA, will aid in addressing global food security challenges.
McGill researchers identified a small region in the genome linked to psychiatric disease and obesity, specifically through BDNF deletion. The study found that individuals with BDNF deletions exhibited major depression, anxiety, and obesity, with weight gain associated with age.
Researchers will analyze data from a unique NIH-funded repository to identify genetic variants associated with premature cardiovascular disease. The goal is to create new screening strategies and therapeutic targets to reduce the human and financial costs of cardiovascular disease.
Researchers have discovered three new genetic regions linked to primary biliary cirrhosis, bringing the total number of known regions to 25. The study used Immunochip technology to survey the genome for signs of autoimmune disease susceptibility.
A comprehensive analysis of the maize genome has been completed, increasing scientists' understanding of differences across related species and individual varieties. The research is expected to speed development of improved corn varieties, which will help optimize yield and disease resistance in changing climates.
Researchers identified 147 genetic regions in sticklebacks that enable adaptation to marine and freshwater environments. Regulatory changes predominate, with most differences occurring in non-coding regions of the genome.
A genome study has identified three genetic variants associated with an increased risk of podoconiosis, a disabling leg swelling caused by an abnormal reaction to soil minerals. The discovery confirms the immune system link to the disease and suggests that drugs targeting immune responses may be useful in treating it.
Researchers discovered 13 new gene regions associated with menopause onset, providing insights into reproductive lifespan and conditions like breast cancer and heart disease. Early menopause is linked to increased risk of these diseases, while later menopause may provide protection.
Researchers discovered that when a new transposon is introduced, it triggers a response that disrupts the piRNA machinery, leading to a massive destabilization of the genome. However, as the hybrids aged, they learned to shut down the new transposon and restore fertility.
Researchers found a shared, unusual genomic architecture in patients with severe diseases, including MECP2 duplication syndrome and Pelizaeus-Merzbacher Disease. This structure is associated with increased genetic material dosage and makes the disorder worse.
A genomic study identified the SF3B1 gene as frequently mutated in myelodysplasia, a precursor to leukaemia. The mutation is associated with ring sideroblasts and anaemia, leading to more straightforward diagnosis through a single blood test.
Researchers will use induced pluripotent stem cells and genome editing technology to recreate participants' own heart artery-lining cells in a dish. The goal is to understand how the 9p21 'gene desert' region contributes to heart disease.
Researchers discovered four genomic regions that control the photoperiod response in maize, with varying effects from different tropical varieties. This study sheds light on the genetic variation controlling day length response, revealing unexpected diversity and potential for improving maize yields.
Two independent microarray studies and a gene network analysis confirm that spontaneous genetic mutations underlie many autism cases. The research identifies an array of genetic variants linked to increased risk of developing an autism spectrum disorder.
A team of researchers has pinpointed genome regions that contribute to the debilitating lung disease associated with cystic fibrosis, providing insight into its causes and potential diagnostic markers. The study also points to new therapeutic approaches for related diseases such as COPD.
A new gene-sequencing study identifies rare de novo mutations in four genes that likely play a causative role in autism. The study suggests that the 'multi-hit' theory of autism may be correct and provides evidence for exome-sequencing as an effective way to discover responsible genes.
A new study suggests that rare genetic variants are more likely to influence disease than common ones. Researchers sequenced the complete genomes of 29 people and found that functional regions of DNA were more enriched in rare variants.
Researchers mapped chromatin marks in nine cell types and linked non-coding SNPs to regulatory networks. This study provides insights into the functions of non-coding regions associated with human disease.
Researchers identified 510 genetic regions highly conserved among chimpanzees and other mammals but missing in humans. These deletions are linked to specific anatomical changes unique to the human lineage, including reduced tactile sensitivity and increased brain size.
A new study has linked 29 genome regions to ulcerative colitis, a common form of inflammatory bowel disease. The research identified genes involved in the immune response and provided insights into the biology underlying the disease.
Researchers have identified fragile regions in mammalian genomes that are prone to genome rearrangements, disrupting genes and altering gene regulation. The new Turnover Fragile Breakage Model suggests these regions undergo a 'birth and death' process over evolutionary timescales.
Researchers at Johns Hopkins University have identified 13 genes associated with human body mass index, shedding light on the complex relationship between epigenetics and obesity. The study, published in Science Translational Medicine, used genome-wide profiling to uncover epigenetic fingerprints that correlate with body weight.
Researchers discovered 12 new regions on the genome with DNA variants linked to type 2 diabetes, raising hopes for early detection and prevention. The study also revealed surprising overlaps between type 2 diabetes and non-related diseases.
The GREAT algorithm allows scientists to analyze vast amounts of DNA sequencing data to reveal control regions for nearly any gene. Researchers can input a list of binding sites and receive an analysis of which genes are likely to be moderated by the transcription factor, including those far away from the coding sequence.
A new genetic link to systemic sclerosis has been identified in a study published in Nature Genetics. The research found that a region of the human genome associated with increased susceptibility to the disease was discovered, which could lead to developing interventions to block its activity.
Epigenetic signals vary across alleles in numerous genomic regions, influencing gene expression and regulation. The study reveals over 35,000 such sites across the genome, with implications for genetic studies of complex diseases, including psychiatric conditions.
Researchers at UNC Chapel Hill created a first-of-its-kind map of the human genome's regulatory elements, revealing clusters specific to pancreatic islet cells. The study identified genetic variants associated with type II diabetes and found that certain genes are 'turned on' or 'off', opening new avenues for understanding the disease.
A recent study identified 155 regions on the canine genome influenced by selective breeding. These regions contain 1,630 known or predicted protein-coding genes linked to physical and behavioral variations such as size, coat color, and behavior.
Researchers at UCSD have made a breakthrough discovery that enables the experimental annotation of genomes. By combining multiple genome-scale measurements, they can identify the location and use of genomic elements with precision. This innovation has significant implications for metabolic engineering, disease research, and drug design.
A genome-wide study has identified a single-letter change in the genetic code associated with autism, highlighting the role of common DNA variation. The research also uncovered two other genomic regions likely containing rare genetic differences that may influence autism risk.
Researchers at Cold Spring Harbor Laboratory have developed a sensitive and accurate way of identifying gene copy number variations (CNVs) using new DNA sequencing technologies. This method allows for the detection of small structural variants that were previously overlooked by current methods.
A new region of the genome associated with an increased risk of melanoma has been identified by researchers at Leeds University and IDIBAPS, funded by the European Commission. The study found a link between this region and skin pigmentation, as well as two previously identified regions linked to melanoma risk.
Research reveals that specific HCV genotype 4a mutations affect treatment outcomes, with a higher frequency of mutations associated with sustained viral response. The study identifies potential targets for developing new assays to predict treatment efficacy.
Researchers develop feature frequency profiles technique for organizing large sets of data, including nucleotide base sequences, books, and images. The method provides more comprehensive analysis over standard tools, correctly grouping works by category and author, and shedding new light on Shakespeare's authorship.
Researchers at Stanford University have found evidence that adaptation is a major driver of human genomic evolution. The study, published online in Public Library of Science Genetics, reveals that genetic mutations beneficial to an organism's environment are more common than previously thought. This suggests that humans have undergone ...
IGV integrates multiple types of genomic data, allowing for rapid analysis and visualization. The tool provides flexible zooming and panning across all resolution scales.
Researchers develop a technique to detect the ancestry of disease genes in hybrid human populations, identifying inherited genes that cause diseases. The algorithm is more powerful and accurate than standard methods, allowing researchers to pinpoint the origins of disease-causing genes and explore potential treatments.
A recent study found that many interactions detected by ChIP-chip are functionally irrelevant. The researchers discovered a clear relationship between the number of factor molecules bound at a given site and its role in gene regulation, suggesting that DNA sites with low-level binding may play no role in regulating gene expression.
A new resource identifies regions of the human genome that regulate gene expression, shedding light on biological processes and potential disease mechanisms. The study's findings may aid in developing treatments by turning harmful genes off or increasing helpful ones.
A new microarray technology enables fast and accurate enrichment of thousands of targeted genomic regions for high-throughput sequencing. This method replaces PCR-based approaches, allowing for the resequencing of entire genomes or specific genes in a cost-effective and efficient manner.
A Yale University study found that structural changes to the human genome, including missing or rearranged segments, contribute to individual differences. These variations were identified using Paired-End Mapping and rapid sequencing methods.
Researchers identified a consistent association between the TRAF1/C5 region and rheumatoid arthritis, suggesting a link to the inflammatory response. The study adds to accumulating evidence that this genetic region is associated with the disease, paving the way for further investigation into its role.
Researchers found a repeating pattern of 8 to 10 base pairs between CG dinucleotides that may signal differential methylation and imprinting. This discovery sheds light on the mechanisms of gene regulation and has implications for understanding disease development, particularly in cancer genes.
The ENCODE project has mapped functional elements in the human genome, revealing widespread transcription and novel promoters. The study also highlights regions of evolutionary constraint, which may be linked to disease.
Researchers at The Wistar Institute have identified an 'insulator' - a stretch of DNA about 800 base pairs long - that serves as a physical barrier between active and inactive regions of the HSV-1 genome. This discovery may lead to strategies to manipulate the virus, and could provide targets for designing drugs to disrupt its mechanisms.
A study published in Nature Genetics identifies PHOX2B, NCF4, and ATG16L1 as genetic risk factors for Crohn's disease. The research highlights the role of neuroendocrine cells and altered reactive oxygen species production in increasing disease susceptibility.
A global survey of genetic variation shows that at least 10-20% of heritable variation in gene activity is due to copy number variations (CNVs), affecting the activity of over 1,000 genes. The study provides a first genome-wide view of how unique genetic variations lead to unique patterns of gene activity.
Scientists at UCSD and Brown University have developed InvChecker, a software program that accurately detects microinversions in genomes. By comparing DNA sequences of multiple species, the tool reveals shared mutations, providing valuable insights into evolutionary relationships and biological mechanisms.
Scientists identified several abnormal genetic events in children with mental retardation and pinpointed a specific deletion on chromosome 17, which may account for ~1% of cases. The discovery provides unprecedented insight into the underlying biology and mechanism of genomic disease using NimbleGen's high-resolution CGH microarrays.
A recent study has identified copy number variants in chimpanzees that are comparable to those found in humans, indicating regions of the genome may be inherently unstable in both species. This research provides valuable insights into genetic diversity and adaptations in our nearest relatives.
Researchers identified common properties among genes implicated in cancer development through a bioinformatic study. The study suggests that random breakage is a key mechanism in tumor formation, with a database of genome regions revealing characteristics of these breaks.
Scientists have developed new methods to study the connection between regulatory DNA and disease, using a combination of genome-wide associations and cell culture data. The study identified over 3000 genes that could be subject to modification of activity due to common genetic variations.
Researchers at Mount Sinai School of Medicine have developed a new gene therapy technique that permanently corrects genetic diseases like PKU by inserting genes into specific sequences between existing genes. The technique was tested on mice and successfully cured the disease with just three intravenous injections.
A study led by The Wistar Institute discovered that the enzyme Ubp10 plays a crucial role in protecting the genome's telomeric regions from destabilization. This protection may help prevent genetic recombinations that can trigger cancer or accelerate aging.