Articles tagged with Genomic Regions
A new DNA test has been developed to identify the genetic causes of inherited muscle disease, offering hope for diagnosis and treatment for thousands of Australians. The test, which uses long-read sequencing, screens over 300 genes and detects complex genetic changes that older tests miss.
J. Craig Venter's pioneering work in expressed sequence tags revolutionized brain-expressed genes identification, while his synthetic cells paved the way for synthetic biology as a working discipline. His legacy has reshaped our understanding of genomes and their functions.
Researchers at John Innes Centre and Earlham Institute developed a powerful single-cell visualisation technique to understand wheat spike development. The study reveals distinct expression patterns across spikes, shedding light on why basal spikelets fail to achieve full size.
Researchers created detailed maps of the human genome's three-dimensional organization across time and space, revealing how genes interact and fold as cells function. The study provides a powerful framework for predicting which genes are likely to be affected by pathogenic variants.
Researchers at Arizona State University introduce powerful tools to analyze microbial family trees and biological data, strengthening microbiome research, disease tracking and environmental monitoring. The new software library scikit-bio provides a foundation for analyzing large biological datasets.
Researchers have discovered a new class of BRCA1 mutations that can be targeted by HSP90 inhibitors, potentially improving treatment outcomes for patients with breast cancer. The study found that these mutations are more resistant to PARP inhibitor treatment but can be overcome with low-dose HSP90 inhibition.
A new study reveals a conserved genetic region, the X-linked recombination desert (XLRD), that preserves species history through gene flow and may play a key role in speciation. The discovery opens new avenues for understanding reproductive dysfunction and infertility.
Scientists have decoded the complex genome of sweetpotato, revealing an intricate origin story and providing a powerful tool for improvement. The research showed that sweetpotato is a 'segmental allopolyploid,' with six sets of chromosomes that contribute to its remarkable adaptability and disease resistance.
By reprogramming chromatin to prevent cancer cells from adapting to evade treatment, researchers have doubled chemotherapy effectiveness in animal experiments. This approach restores cellular memory, making existing drugs more effective against cancer.
A study reveals that decades of overfishing have significantly altered the genetic composition of Eastern Baltic cod, leading to reduced growth rates and smaller sizes. The researchers found a correlation between slower growth and increased survival under high fishing pressure.
A team of researchers has comprehensively predicted the location of non-B DNA structures in great apes using newly available telomere-to-telomere genomes. The study suggests that non-B DNA is enriched in these segments and may play a role in genetic diseases and cancer, with potential new functions discovered.
Researchers analyzed DNA from four generations of a large family to understand genetic mutations and their transmission. They found that the rate of de novo mutations varied by over twenty-fold depending on genome location.
The study provides a comprehensive reference for six ape species, including siamang, Sumatran orangutan, gorilla, bonobo, and chimpanzee. The ape genomes offer new insights into human and ape evolution, genetic differences among species, and potential therapeutic applications.
A new study highlights the need for more diversity in genomics research, as a commonly found gene variant was mistakenly linked to heart disease in people from Oceanian communities. The researchers found that the variant is actually common among healthy individuals from these regions.
A new study uses CRISPR-Cas13 to identify nearly 800 noncoding RNAs that are functional and essential for cell function, including in cancer and human development. The researchers found that these RNA molecules modulate key pathways for cell proliferation and can serve as potential biomarkers and therapeutic targets for cancer treatment.
A new study finds that the gene for starch-digesting saliva may have first duplicated more than 800,000 years ago, seeding genetic variation that shapes modern diet. This early duplication set the stage for significant variation in the amylase region, allowing humans to adapt to shifting diets with increasing starch consumption.
A new method using shared segments within the genome has identified undiagnosed cases of Long QT syndrome, a rare disorder that can lead to abnormal heart rhythms and sudden cardiac death. The approach was developed by researchers at Vanderbilt University Medical Center and applied to a DNA biobank to detect carriers of rare disease-ca...
Over 12,000 years ago, humans in Europe increased their ability to digest carbohydrates by expanding the number of genes for enzymes that break down starch. This rapid increase in gene copies provided a survival advantage and tracks the spread of agriculture across Europe.
Researchers found that blind cavefish develop more taste buds on their head and chin, particularly after 18 months of age. This adaptation is thought to be an adaptive trait, allowing the fish to better detect food sources like bat guano.
The CRISPR/Cas9 system has been adapted for genome visualization, enabling the study of chromatin dynamics and genome organization in living cells. Recent advancements have expanded its applications to live cell imaging, providing a robust tool for visualizing genomic loci.
A new study reveals that snap bean germplasm has a master switch controlling multiple stress tolerance genes, offering a potential solution to waterhemp and other herbicides. The genomic region responsible for this tolerance acts like an on-and-off switch, with higher expression of certain enzymes and antioxidants in tolerant plants.
Researchers at KAUST have developed NanoRanger, an accurate and rapid method for genetically diagnosing Mendelian genetic disorders. This breakthrough enables diagnosis in just 12 minutes, providing a detailed picture of the genomic disorder.
A genome study has identified regional adaptations in American chestnut trees, informing restoration efforts and climate resilience. The research provides guidance for conserving genetic diversity across the Appalachian region, with a focus on preserving the most genetically diverse southern population.
Researchers at Baylor College of Medicine discover that cattle have CoRSIVs, regions on the DNA that regulate gene expression and can predict desirable traits such as milk production and disease resistance. The study opens new possibilities for improving production efficiency in the cattle industry.
An international team of evolutionary biologists investigated the genomic underpinnings of plant adaptation to cold environments. The study found that polyploids exhibit genomic structural variants with signals for possible local adaptation more frequently than diploid species.
A team has assembled the genome and 3D chromosomal structures of a 52,000-year-old woolly mammoth for the first time. The preserved chromosomes revealed the mammoth's genomic organization and active genes in its skin tissue.
Researchers, including Assistant Professor James Lewis, are studying the evolution of butterfly wing color patterns as a model for understanding population adaptation to environmental changes. The study aims to understand why some Heliconiine butterflies lose their mimicry phenotype and how this affects their survival.
Hybrids between two manakin species in Panama have remained relatively stable over the past 30 years, with minimal changes in genomic markers. The phenotypic transition zone also shows stability, with only one trait having shifted location, suggesting a potential selection for green bellies.
Researchers have discovered a new source of resistance to the devastating wheat blast disease, leveraging a gene that also protects against powdery mildew. The Pm4 gene, found in European wheat varieties, confers dual protection against the pathogen and its effector molecule AVR-Rmg8.
The Kids First DRC has introduced an upgraded data portal to streamline big data search and analysis, improving collaborative pediatric research outcomes. The new portal integrates diverse datasets, including genomic information from the Children's Brain Tumor Network, to foster cross-disciplinary research.
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 at La Jolla Institute for Immunology developed a computational method to link gene activity to molecular marks on DNA, potentially aiding in the detection of solid tumors and more accurate cancer diagnoses. This new approach utilizes machine learning tools to identify connections between genes and enhancers in the genome.
A study led by Andrea Migliano from the University of Zurich has discovered previously unknown links between culture, language, and genes among different hunter-gatherer populations in Central Africa. The team found that musical instruments were exchanged long before agricultural populations arrived in the region, suggesting extensive ...
A study from North Carolina State University found that environmentally caused alterations in the genome may contribute to Alzheimer's disease risk, particularly in Black people. The research identified stable epigenetic features that distinguish Alzheimer's brains from those without the disease.
Researchers analyzed epigenetic modifications in motor neurons from nearly 400 ALS patients, identifying 30 locations with modifications linked to disease progression. The findings may help develop targeted treatments for specific types of ALS.
A new study has identified 17 significant genetic variants linked to Alzheimer's disease in five genomic regions. The findings highlight the value of whole genome sequencing data in gaining long-sought insight into the ultimate causes and risk factors for Alzheimer's, which is the fifth leading cause of death among people 65 and older.
Researchers developed an improved method for G4 landscape determination, revealing that sequence property-specific constraints in the nuclear environment mitigate G4 formation. The technique, AbC G4-ChIP, captures G4s efficiently without bias, showing that depletion of a repeat-binding protein enhances net G4 capture at specific sites.
Researchers developed chronological age prediction models by analyzing gene expression changes in the prefrontal cortex, identifying genes associated with aging and potential mechanisms. The models showed high correlation with age and demonstrated female and male-specific differences.
Researchers at CNIO have discovered a new protein that prevents DNA triplication, reducing the risk of cancer. The RAD51 protein ensures that DNA is copied only once, preventing errors and damage.
DNA analysis of ancient Bahraini remains shows the presence of a malaria-protective G6PD Mediterranean mutation in three samples, suggesting many people in ancient populations enjoyed protection from malaria. The discovery provides insights into human history and disease progression in the region.
A study found that weedy rice's promiscuity allows it to crossbreed with wild rice, enabling it to adapt and outcompete cultivated rice. This process, called adaptive introgression, has contributed to the evolution of Southeast Asian weedy rice.
Researchers at the University of Illinois have identified genomic regions associated with resistance to four diseases in corn: Goss's wilt, gray leaf spot, northern corn leaf blight, and southern corn leaf blight. The study found that multiple genes working together can provide durable resistance against different pathogens.
Scientists at Helmholtz Institute for RNA-based Infection Research developed a new method called SHIFTR, enabling the discovery of interactions between specific RNA regions and proteins in live cells. This breakthrough has shed light on SARS-CoV-2 replication and identified potential targets for innovative antiviral therapies.
Researchers discovered that de novo mutations in promoter regions of TADs containing known ASD genes are associated with increased ASD risk due to interactions in the three-dimensional structure of the genome. This 'butterfly effect' explains how mutations can affect distant ASD-related genes, highlighting the need for a new diagnostic...
Researchers have developed a novel tool for the selective and efficient recovery of large DNA molecules using TAR cloning. This technique has been applied to isolate individual gene alleles, study genome architecture and evolution, and engineer synthetic viruses with novel properties, including vaccine development.
Researchers at Indiana University have completed the final gaps in the Arabidopsis genome sequence, revealing how ribosomal RNA genes are organized and regulated. The study found that one NOR is nearly completely silenced in growing plants, while the other accounts for almost all ribosomal RNA gene activity in its central region.
Researchers found evidence of domesticated yak dating back 2,500 years in the southern Tibetan Plateau, revealing insights into animal domestication pathways and human adaptation to high-altitude environments. The discovery was made using a combination of ancient DNA sequencing and zooarchaeological analysis.
Researchers at the Centro Nacional de Investigaciones Cardiovasculares discovered the molecular mechanisms behind proper heart valve formation and prevention of calcification. They found that Notch signaling pathway disruption causes both valve defects and calcification.
A multidisciplinary study reconstructed the genomic history of the Balkan Peninsula during the first millennium CE, highlighting cosmopolitanism of the Roman frontier. The analysis revealed a large demographic contribution of people from Anatolia and cases of long-distance mobility from Africa and the steppes.
Researchers at La Jolla Institute for Immunology and Massachusetts General Hospital mapped the genome to understand how IKAROS controls healthy B cell development. They found that IKAROS solves a big problem in B cell development by bringing together far-away genes through looping, leading to proper expression and antibody production.
A new MIT study proposes a theoretical model that helps explain how cells maintain the memory of their cell type despite losing chemical modifications during DNA replication. The research team suggests that the 3D folding pattern of the genome determines which parts will be marked by these chemical modifications.
Researchers from China and Spain assembled the first high-quality genome of a semi-wild melon, discovering genetic variants linked to resistance against diseases and unique fruit ripening mechanisms. The study provides valuable resources for future research on resistance breeding in melons.
Researchers created the world's largest primate brain-wide atlas using single-cell technologies, revealing over 4 million cellular profiles. The study provides a comprehensive multimodal molecular atlas to explore links between molecules, cells, brain function and disease.
A team of researchers applied an unsupervised data-driven analysis method to multiomics dataset, identifying patterns shared across gene expression, DNA methylation, and genetic variation. The study found that these patterns are associated with various diseases and can be used to predict disease onset.
Researchers at KAUST discovered that certain combinations of stressors increase gene-transfer rates, while others reduce it. They found synergistic effects from combining stressors like UV light and disinfection chemical byproducts, as well as antagonistic effects from chloroform.
Scientists have identified thousands of non-coding genetic variants linked to Alzheimer's disease, focusing on their impact on microglial gene expression and function. The study found that turning off specific regions can affect multiple genes, highlighting the complex mechanisms underlying AD.
Researchers created a comprehensive molecular tree of camel spiders, revealing two main groups in the Americas and their relationships. The study also found that camel spiders began evolving around 250-300 million years ago during the Permian period.
Researchers at Van Andel Institute have identified a key part of a mechanism that annotates genetic information before it is passed from fathers to their offspring. The findings shed new light on genomic imprinting, a fundamental biological process linked to diseases such as Silver-Russell syndrome and certain cancers.
Researchers found that specific regions of the genome with unique features act as hotspots for mutation accumulation in human cancer. Certain mutational signatures linked to alcohol consumption accumulate in early-replicated genome segments, defying conventional understanding.
Researchers have identified genetic variants and structural patterns that contribute to the development of Bartter syndrome type 3, a rare kidney disease. The study's findings may lead to better diagnostic and treatment options for affected individuals.