New Nijmegen method reveals hidden genetic variations
A new method, Chameleolyser, reveals previously invisible genetic variations in exome sequencing data. This has led to new patient diagnoses and the discovery of potential disease genes.
Dna Regions
Articles tagged with Dna Regions
Genomic insights for prenatal screening - The advantages of low-pass genome sequencing
A new study validates Low-Pass Genome Sequencing (LP GS) as a robust and cost-effective alternative to Chromosomal Microarray Analysis (CMA) for prenatal diagnosis. LP GS detects six additional Copy Number Variations (CNVs) in cases with negative CMA results, highlighting the importance of sequencing depth in its detection sensitivity.
Scientists generate first single-cell “atlas” of the primate brain to help explore links between molecules, cells, brain function and disease
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.
Researchers find a cancer enhancer in the genome that drives tumor cell growth
Cancer cells exploit enhancer DNA to accelerate tumor growth, according to researchers at the University of Toronto. The study found that specific proteins regulate this process, suggesting potential treatments through FOXA1 or NFIB suppression.
What makes a carrot orange?
A genome study of over 600 carrot types finds that recessive genes controlling orange carotenoids are essential for the vegetable's orange color. The study also sheds light on carrot domestication in Western Asia and Europe during the Middle Ages and Renaissance periods, respectively.
A few essential genetic differences tailor flowers to bee or hummingbird pollinators
A study published in PLOS Biology identifies key genetic loci that distinguish Penstemon species with flowers adapted to different pollinators. The research reveals surprisingly few genetic differences between species with different pollination syndromes, suggesting strong selection to maintain flower traits.
Invasive red fire ants confirmed in Europe for the first time
Researchers confirm invasive red fire ant species Solenopsis invicta has established itself in Sicily, with potential to spread across Europe due to climate change. Urban areas are particularly at risk, and the team plans a multi-year treatment plan to eradicate nests and monitor the ants' spread.
New research identifies 28 genetic regions linked to susceptibility and severity of COVID-19
A study published in Nature has identified 51 significant genome-wide loci associated with COVID-19 severity and SARS-CoV-2 susceptibility. The research adds 28 new loci to the list, providing valuable information about three key biological pathways involved in determining disease outcomes.
Sahmyook University researchers uncover molecular pathways underlying depression
A study published in Brain, Behavior, and Immunity found that inflammation-related genes play a significant role in depression. The researchers discovered correlations between immune-related genes, DNA methylation patterns, and brain structure abnormalities in patients with major depressive disorder.
Study illuminates mechanism that annotates genetic information passed from fathers to offspring
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.
Pitt Public Health researchers uncovered new genetic traits influencing Alzheimer's risk
Researchers at Pitt Public Health analyzed thousands of human genomes to find new gene variations influencing Alzheimer's disease risk. They identified 15 additional variations in the APOE gene and other genome areas that may influence disease risk, although more research is needed for definitive conclusions.
Study reports discovery of new cell type in thymus
Researchers at UC Riverside have discovered a new cell type in the thymus that is similar to M cells found in the gut and airways. The newly discovered cells are like gatekeepers, acting as antigen-delivery cells for the immune system in organs such as the intestine and lung.
Researchers assemble the first complete sequence of a human Y chromosome
A team of researchers has generated the first complete sequence of a human Y chromosome, uncovering important genomic features with implications for fertility. The new sequence reveals factors in sperm production and provides insights into medically relevant regions, such as the azoospermia factor region.
Reanalysis of Iceman Ötzi’s genome reveals dark skin, male pattern baldness, and more
The study of Ötzi's genome reveals surprisingly high levels of Anatolian Farmer ancestry, indicating a genetically isolated Alpine population. The findings also suggest that Ötzi had dark skin, dark eyes, and male pattern baldness, contradicting previous reconstructions.
New research suggests a key role of ice age cycles in early human interbreeding
Scientists discovered that climate shifts during the last 400,000 years influenced the frequency of Neanderthal-Denisovan interbreeding. The researchers found that temperature changes triggered habitat overlaps, leading to increased contact between the two species.
Like beads on a chain
A team of researchers developed a computational simulation that explains key mechanism of DNA segregation, providing new insights into the distribution of genetic information during bacterial cell division. The study reveals fundamental biochemical principles relevant to synthetic biology and medical applications.
AI helps scientists generate Z-flipon map
Researchers used AI to predict Z-DNA fragment locations that overlap with known mutations causing severe hereditary diseases. These fragments can influence traits and body processes, including hair color, height, weight, and cholesterol levels.
Study reveals significant difference in cardiomyopathy genes between Black and White patients
Researchers found that African ancestry patients with dilated cardiomyopathy have fewer clinically actionable variants in DCM genes compared to European ancestry patients. The study enrolled 1,198 patients with dilated cardiomyopathy, revealing a racial imbalance in genetic trials for heart failure.
An ancient grain unlocks genetic secrets for making bread wheat more resilient
A KAUST-led team has compiled the first complete genome map of einkorn, an ancient grain that could help develop bread wheat varieties with enhanced disease resistance and improved hardiness. The study reveals a complex evolutionary history of wheat species, including gene flow between einkorn and wild cousins.
DNA decodes the dining preferences of the shell-shucking whitespotted eagle ray
Researchers at Florida Atlantic University uncover the finer-scale feeding patterns of the whitespotted eagle ray, revealing a significantly broader diet than previously described, with high proportions of cockles and wedge shells. The study's findings suggest that these rays can play a facilitative role in reducing predation threats f...
Storing fat at the waist may NOT up diabetes risk, surprise findings indicate
Researchers found a genetic link that explains how certain individuals store fat at the abdomen but remain protected from type 2 diabetes. This discovery could pave the way for personalized medicine, tailoring treatments to individual genetic variations.
DNA analysis offers new insights into diverse community at Machu Picchu
A genetic analysis of individuals buried at Machu Picchu suggests a highly heterogeneous population with diverse ethnic origins. The study finds that many retainers were of Amazonian origin and had mixed ancestries, indicating selective mate choice.
Ancient DNA reveals diverse community in “Lost City of the Incas”
A new study using ancient DNA found that workers buried more than 500 years ago came from different parts of the Inca Empire, including Amazonia. The analysis supports historical documentation and archaeological studies, providing insights into the genetic histories and lifeways of Machu Picchu's occupants.
Biobank-scale imaging data unveils the genetic architecture of the human skeletal form
Researchers analyzed full-body X-ray images and genomic data from 30,000 UK Biobank participants to understand the genetic architecture of the human skeletal form. They identified 145 independent genetic loci associated with skeletal proportions, linking them to musculoskeletal disease and evolution.
Unraveling the mystery of semi-extractable RNAs from human cell lines
The study identifies 1,074 semi-extractable RNAs potentially involved in phase-separated membraneless organelles. These RNAs are enriched in repressed heterochromatin regions and act as hubs for RNA-RNA interactions.
Korea University Medicine study highlights a new biomarker for major depressive disorder
Researchers at Korea University Medicine identified a new neuroimaging-based biomarker for MDD, the local gyrification index (LGI), which shows decreased cortical folding in patients. LGI values reflect long-drawn developmental processes and are stable markers compared to previous biomarkers.
From sea to mountain: legend of a terrestrial crustacean
A study published in Science Advances discovered that talitrids, a group of small crustaceans, independently colonized mountain habitats four times during the Oligocene and Miocene periods. Genetic adaptations allowed them to survive in colder environments and establish themselves in diverse habitats worldwide.
Chinese Medical Journal Pulmonary and Critical Care Medicine study uncovers trends in the global burden of tracheal, bronchus, and lung cancer
The study found a decreasing trend in the global TBL cancer burden from 1990 to 2019, but regional variations persisted. The burden was highest in upper-middle-income countries and lowest in high-income countries.
Building a new vaccine arsenal to eradicate polio
Scientists at UCSF and NIBSC have developed two new oral polio vaccines with genetically engineered weakened poliovirus to reduce reversion to dangerous forms. These vaccines aim to boost the World Health Organization's efforts to eradicate polio, which has persisted despite successful international vaccination campaigns.
Mapping the genetic history of French Canadians through space and time
A new study maps French Canadian populations using a unique dataset of over five million records spanning 400 years, revealing the complex relationship between human migration and genetic variation. The research shows that the genetic structure of French Canadians is encoded within its genealogy.
Effects on memory of neuron diversity in brain region revealed
A new study found that neurons in a key brain region have different functions based on their genetic identity, which could lead to better understanding of the brain's computational flexibility and memory capacity. The diversity of neurons in the CA1 region of the hippocampus was previously unknown and is crucial for memory development.
A multiomics approach provides insights into flu severity
Researchers used a multiomics approach to analyze changes in transposable elements after influenza A virus infection, identifying transcription factors contributing to individual responses. The study provides insights into the variable severity of illness among individuals infected with the same virus.
UW Medicine scientists among leads of NIH pangenome studies
The Human Pangenome Reference Consortium expands and updates the human genome project with nearly full genomic data from 47 people of diverse ancestry. Researchers at UW Medicine made significant contributions to drafting the pangenome reference and studying variation within repetitive DNA, which could improve equity in human genome re...
An unprecedented view of gene regulation
Researchers create high-resolution maps of the 3D genome, revealing interactions between enhancers and promoters that weren't previously seen. The findings suggest many genes interact with dozens of regulatory elements, opening possibilities for studying gene regulation and potentially understanding diseases.
CRISPR and single-cell sequencing pinpoint causal genetic variants for traits and diseases
A new approach, STING-seq, combines genetic association studies, gene editing, and single-cell sequencing to identify causal variants and genetic mechanisms for blood cell traits. This method can help scientists identify drug targets for diseases with a genetic basis.
Genomes from 240 mammal species explain human disease risks
A large-scale genomic study of 240 mammal species reveals previously uncharacterized regulatory elements in the human genome, linked to disease risks and distinctive traits. The research provides insights into the evolutionary development of mammalian genomes and their potential applications in medical research.
Study suggests catalyst for human brain evolution
Large structural changes in human ancestors' genomes may have sparked smaller changes that set human brains apart from other primates. Researchers found that many enhancers, which regulate brain development, are located near these regions, suggesting a link between DNA folding and brain evolution.
Searching for ancient bears in an Alaskan cave led to an important human discovery
Researchers have made an important human discovery by analyzing the genome of a 3,000-year-old individual found in a cave in Southeast Alaska. The study confirms that some modern Alaska Natives still live almost exactly where their ancestors did over 3,000 years ago.
How “master regulators” of cells make DNA accessible for gene expression
Researchers from Penn State and Ohio State University used structural biology, biophysics, and cell biology to understand how pioneer factors interact with nucleosomes. They found that a specific region of the protein helps it access DNA, making it accessible for proteins involved in gene expression.
Texas A&M researchers detail groundbreaking Angelman syndrome development
Researchers at Texas A&M University have developed the first molecular therapeutic for Angelman syndrome, a devastating neurogenetic disorder. The therapy targets an evolutionarily conserved region in the UBE3A-AS transcript and has shown promising results in clinical trials.
Aging | Age-related methylation changes in the human sperm epigenome
Researchers identified over 1,000 genes with age-related methylation changes in human sperm. These changes are associated with increased offspring disease susceptibility for neurodevelopmental disorders. The study found no correlation between paternal BMI or semen quality and age-related methylation changes.
Disproportionate percentage of females with unexplained infertility have gene variants known to cause heart problems, cancer
Researchers at Medical College of Georgia identified an increased prevalence of disease-causing genetic variants in females with unexplained infertility. The study found that 17% of these women had gene variants known to cause heart problems and cancer.
Indigenous Ashaninka DNA helps geneticists write new chapters of pre-colonial history in South America
Geneticists used Ashaninka DNA to uncover a strong hint of a South-to-North migration that led to the transition from an archaic to ceramic culture in Caribbean islands. The study provides new insights into pre-colonial American history and highlights the importance of microgeographic studies.
Largest-ever genetic study of prostate cancer in men of African descent finds new risk factors for the disease
A recent study has identified nine new genetic variants that increase the risk of prostate cancer in men of African descent, including a variant linked to aggressive forms. The findings can be used to refine polygenic risk scores and identify high-risk patients for earlier screenings.
Researchers provide proof of the helical coiling of condensed chromosomes
The study confirms the helical coiling of condensed metaphase chromosomes, a concept that has been debated for decades. Researchers used multiple experimental approaches to validate the existence of chromonema coiling in barley and propose a general mechanism for chromosome condensation.
Social deficits and seizures in autism type tied to overexcited brain circuits
Researchers identify duplicated gene as cause of social deficits and seizures in autism type, finding that reducing PRRT2 levels can restore normal brain activity and behavior. This discovery could lead to novel therapies for neurodevelopmental disorders with brain over-activation.
ASU News New study on DNA transcription uncovers links to neurodegenerative disease
Researchers estimate transcription error rates in human cells and identify genetic and epigenetic factors responsible for inaccuracies. Inaccurate transcription produces truncated or altered proteins, leading to disease.
Deadly waves: Researchers document evolution of plague over hundreds of years in medieval Denmark
A longitudinal study reveals Yersinia pestis, the bacteria that causes plague, was reintroduced into the Danish population from other parts of Europe again and again, with devastating effects. The analysis, reported today in Current Biology, identified plague for the first time from medieval Denmark.
Computational modeling sheds light on human cognition and the origins of brain disorders
Researchers developed an AI model to analyze noncoding DNA mutations' impact on brain function and development, identifying potential causes of complex brain disorders like autism. The study sheds light on the origins of brain disorders and may lead to novel treatments.
What crocodile DNA reveals about the Ice Age
Researchers from McGill University found that changes in sea levels during the Ice Age affected crocodile gene flow, isolating Caribbean and Pacific populations with distinct genetic mutations. The study reveals the resilience of American crocodiles to climate swings and highlights the need for targeted conservation efforts in Panama.
Evolution of uniquely human DNA was a balancing act, study concludes
Researchers found that many changes to human DNA had opposing effects, with some variants making enhancers stronger while others made them weaker. This discovery has implications for understanding human evolution and the potential link between human DNA variations and psychiatric diseases.
Scientists discover a new way of sharing genetic information in a common ocean microbe
Researchers found a novel gene-transfer mechanism in Prochlorococcus that enables the transmission of entire blocks of genes between organisms, even when widely separated. This mechanism, dubbed 'tycheposons,' involves sequences of DNA that can include several genes and are transported by membrane vesicles or hijacked virus particles.
2,000 years of genetic history in Scandinavia elucidates Viking age to modern day
A new study analyzes 48 ancient human genomes and over 16,500 modern Scandinavian genomes to reconstruct the region's genetic history. The research shows that ancestries introduced during the Viking period later declined, suggesting ancient immigrants contributed proportionately less to the modern gene pool.
A legume locus stimulates promiscuous interaction with soil bacteria
A recent study discovered a legume locus that stimulates promiscuous interaction with soil bacteria, forming nitrogen-fixing nodules with up to 30 different rhizobial strains. This finding opens the door for crop improvement by naturally promoting plant growth through symbiotic associations.
Here today, gone tomorrow: how humans lost their body hair
Researchers compared genetic codes from 62 animals to uncover the story of human body hair loss. The study found that a set of genes and regulatory regions are essential for making hair, and suggests new ways to recover hair after balding or chemotherapy.
Atopic dermatitis in dogs linked to certain parts of the genome
Research by Uppsala University and Swedish University of Agricultural Sciences links atopic dermatitis in dogs to specific genome regions. The study identifies genes coinciding with human atopic eczema, including the filaggrin gene region.
A Tale of Terroir: Porcini mushrooms have evolved with a preference to local adaptation
A study reveals that porcini mushrooms have evolved in different ways across the globe, with local ecological factors playing a stronger role in maintaining genetic distinctiveness than genetic flow. The findings challenge traditional notions of species development and suggest multiple evolutionary strategies for this organism.
Butterfly wing patterns emerge from ancient “junk” DNA
New research reveals how non-coding DNA accommodates a basic plan for butterfly wing patterns while allowing evolution of diverse patterns. Regulatory elements work like switches to turn up or down patterns, supporting an ancient color pattern ground plan.
Polynesian study yields new clues to genetic causes of high cholesterol
A genetic variant associated with low levels of HDL 'good' cholesterol and high triglycerides has been identified in Polynesian people. This discovery provides new insights into the genetic causes of high cholesterol and may lead to the development of more effective treatment options.
Complex regulation controls mediator of cancer growth
The study reveals how the activating partner PI5P interacts with two different regions of regulatory protein UHRF1, showing its role in modulating complex proteins. This finding could breathe new life into the search for UHRF1-directed medicines.