Researchers at Cold Spring Harbor Laboratory have deciphered the first step in DNA replication, a process crucial for life. The study identifies over 100 proteins essential for this mechanism, which enables cells to duplicate genetic material efficiently.
Researchers identified unique biological mechanisms that cause premature aging in the brains of individuals with alcohol, opioid, and stimulant use disorders. Different substances appear to hijack the brain's natural aging rhythm through distinct molecular mechanisms, though some pathways are shared across different substance types.
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Researchers uncover pivotal role of ZmCCT2 in regulating maize mesocotyl length and adapting to high altitudes. Significant associations between genetic variations and mesocotyl lengths were found, highlighting the essential function of ZmCCT2 in promoting cell elongation.
Researchers used umbilical cord blood to analyze genetic changes linked to metabolic dysfunction in children. The study found multiple regions of altered DNA associated with metabolic issues later in childhood.
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.
A study published in the Journal of Medical Entomology found a gene mutation in bed bugs that may contribute to their resistance to insecticides. The researchers, led by Warren Booth, discovered the mutation in 134 unique populations of bed bugs collected from North America between 2008-22.
Researchers at MIT have discovered that a genetic variant can lead to defects in transfer RNA molecules, causing embryonic face cells to fail to fuse properly. This study sheds light on the molecular mechanisms underlying cleft lip and cleft palate formation.
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Researchers have identified new candidate genes that could be responsible for congenital deafness, a condition affecting around one in 1,000 babies born in the UK. The study suggests that understanding these gene mutations may hold the key to devising effective treatments.
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.
Research reveals that placental DNA methylation influences expression of genes associated with psychiatric disorders, suggesting genetic risk manifests during prenatal stage. The study identifies schizophrenia, bipolar disorder, and major depression disorder as most strongly linked conditions.
Research from the Long Life Family Study found individuals from long-lived families have significantly better vascular health than the general population. The study identified key risk factors and four genomic regions linked to PAD risk, providing novel insight into underlying mechanisms.
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.
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A comprehensive genetic representation for over 2.5 billion people has been created, capturing genetic diversity and variations found in diverse populations. This pangenome reference aims to enhance early diagnosis and personalized treatments for genetic diseases prevalent in the region.
A study uncovered new genetic clues explaining why some prostate cancers grow slowly while others become life-threatening, identifying 223 mutations that determine tumor progression. The research shows germline and somatic variability work together to initiate and drive prostate cancer.
Researchers developed a deep-learning framework, STAIG, to automatically map distinct genetic activity to tissue regions without manual alignment. The study demonstrates superior performance across various conditions, showcasing its potential for cancer research and understanding complex biological systems.
Researchers discover that the gene HMGA1 'opens' regions of the genome to activate stem cell genes, leading to tumor development and progression. High levels of HMGA1 also allow mutant tumor cells to escape detection by immune cells.
Researchers have discovered evidence that plague may have been involved in epidemics a century before the Black Death, challenging previous assumptions about the disease's arrival in Western Eurasia. The study uses historical sources and genetic analysis to propose a new timeline for the plague's emergence.
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A team of geneticists discovered a gene 'silencer' in junk DNA that prevents the devastating neurological disease autosomal dominant leukodystrophy (ADLD). The silencer element regulates lamin B1 expression, only affecting one type of cell, and its presence can spare patients from fatal symptoms.
A new study reveals that postnatal exposure to tobacco smoke can alter the way genes are expressed, increasing the risk of diseases such as asthma and cancer. The study found 11 regions associated with second-hand smoke exposure, six of which are linked to smoking-related diseases.
Researchers identified a previously unknown plastome structural variation in Dianella tasmanica, providing a genetic explanation for its distinctive leaf coloration. The finding suggests that similar genetic variations may be widespread among variegated plants.
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A deadly ciliate parasite has decimated sea urchin populations in the Caribbean, Red Sea, and Indian Ocean, with mortality rates reaching over 90%. The International team of researchers is working to track the disease and preserve sea urchins, which play a crucial role in maintaining coral reef health.
Researchers developed a nanoparticle-based vaccine that generates antibodies targeting conserved regions of sarbecovirus receptor-binding proteins, offering broader protection against multiple strains. The vaccine demonstrated strong antibody responses and protection in animal studies against diverse SARS-CoV-2 and other sarbecoviruses.
A study by UTHealth Houston researchers has identified a link between large and rare duplications and deletions in chromosome region 22q11.2 and nonsyndromic bicuspid aortic valve disease, involving genes that regulate cardiac development.
A new study published in PLOS ONE found that the genomes of dogs within the Chornobyl Exclusion Zone did not exhibit genetic mutations from radiation exposure. Instead, researchers suggest that low-level environmental toxin exposure over many years may have contributed to genetic differences between dog populations. The findings offer ...
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Researchers have identified the gene DYRK1A as a key driver of 'glue ear' in people with Down syndrome, a middle ear condition commonly known as otitis media with effusion. The discovery paves the way for future targeted therapies to address hearing loss in patients.
A new study provides genomic evidence of early migration from New Guinea into the Wallacea archipelago, addressing major gaps in human genetic history. The research shows that Papuan ancestry is widespread across Wallacea, pointing to historical migrations from New Guinea.
A joint research group clarifies a key mechanism of how retrotransposons preferentially insert in the centromere. The findings reveal strong integration biases for certain genetic elements, shedding light on rapid genome evolution.
Scientists investigated the role of ancient VR type-1 (ancV1R) receptor in pheromone detection using knockout mice. The study found that ancV1R-deficient female mice had impaired pheromone detection and exhibited abnormal sexual behavior.
Researchers have discovered a major setback in the use of AZD7648 to promote precise gene editing, which causes massive genetic changes and genome instability. Despite this, scientists remain optimistic about advancing CRISPR-Cas technology to treat diseases.
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Brazilian scientists have discovered ancient maize specimens in caves that exhibit primitive traits similar to those of the ancestral plant from Mexico, where domestication began. The findings support the theory that domestication may also occurred in South America.
A recent study published in Nature Human Behaviour reveals that the Linear Pottery Culture (LBK) people showed no signs of population stratification, with homogeneous cultural traces across thousands of kilometers. The lack of genetic diversity among families also suggests social equality.
Researchers found overlapping genetic underpinnings between rhythm-related skills and language-related traits, including dyslexia. The study identified 16 regions of the genome that overlapped between rhythm and language, suggesting a complex genetic architecture shared by these fundamental human traits.
The WHO's Technical Advisory Group on Genomics published an article outlining challenges and actions to promote the use of genomics in public health. The group aims to increase awareness and provide technical guidance to accelerate access to genetic technologies, enabling preventive measures and targeted treatment for various diseases.
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A new study from the University of Texas M. D. Anderson Cancer Center found that at least 3% of normal breast tissue cells in healthy women contain chromosome abnormalities associated with invasive breast cancer, which may guide future approaches to early detection.
Researchers found that genetic collisions between transcription and DNA replication lead to large tandem duplications in cancer cells, which can be identified through dosage imbalance. These duplicates are associated with poor patient survival and high correlation with mutations in genes TP53, CDK12, and SPOP.
Researchers observed distinct growth patterns in brain functional networks during the birth transition, with some areas showing minimal changes and others undergoing dramatic reorganization. The subcortical network was found to exhibit significant increases in communication efficiency at birth.
A team of biologists at UT Arlington has discovered a new species of gecko, Pseudogonatodes fuscofortunatus, with distinct skeletal features and genetic data. The discovery highlights the unique characteristics of this tiny lizard, found in the Paria Peninsula of Venezuela.
A new study introduces a multi-omics-based molecular classification of gastrointestinal stromal tumors, categorizing them into four distinct subtypes. The findings identify key genetic signatures and tumor suppressor genes that influence treatment response, providing a roadmap for personalized therapy strategies.
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Scientists at Johns Hopkins Medicine identified 16 genes that breast cancer cells use to survive in the bloodstream, including MUC1, which is already in clinical trials. The research showed that hypoxic cells are able to migrate to higher oxygen levels and form metastasis in the body, leading to a worse prognosis.
Researchers have identified 44 genetic regions associated with metabolite levels in the body, which can influence cardiovascular risk. The study found a potential molecular mechanism by which six genetic loci are linked to cardiovascular risk through the metabolites they regulate.
A recent study published in Cell reveals that nearly one in six disease-causing mutations leads to proteins mislocalizing within the cell. The research team developed a high-throughput imaging platform to assess protein location and found that breakdowns in protein stability are a major driver of misplaced proteins.
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Scientists have discovered a long non-coding RNA called CHASERR that regulates the production of the CHD2 gene, which is associated with neurodevelopmental disorders. The study found that patients with a deletion of this RNA had excessive CHD2 protein production, leading to severe intellectual delays and other symptoms.
Researchers identified 254 genetic variants that shape key brain structures, including those controlling memory, motor skills, and addictive behaviors. The study provides a roadmap for understanding the genetic basis of brain-related disorders like Parkinson's disease and ADHD.
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 study published in Science reveals that the salivary amylase gene (AMY1) may have first duplicated more than 800,000 years ago, seeding genetic variation that shapes human digestion of starchy foods. This early duplication allowed for increased starch-digesting efficiency and may have played a role in human adaptation to new diets.
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Researchers identified three genetic regions strongly associated with increased prostate incidence in a diverse group of African men. The study, the largest of its kind in Africa, may lead to new treatment possibilities and refined screening methods.
Studies discovered that DNA sequence changes associated with diabetes predisposition alter pancreatic cell stress response, leading to reduced insulin production and increased cell death. The findings point toward a druggable target, MAP3K5, which may help prevent or treat type 2 diabetes in high-risk individuals.
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...
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Researchers compared epigenetic changes across the genome in young adults who vaped, smoked or did not use nicotine products, finding a tumor-suppressor gene among the key findings. The study found substantial overlap in DNA methylation patterns between people who vaped versus those who smoked.
A recent FAU study reveals that mesophotic corals can replenish declining shallow reef populations with strong genetic connectivity between shallow and deep zones. The research suggests that deeper corals could be a key source of genetic diversity for shallow reefs, providing valuable opportunities for recovery and restoration efforts.
Researchers identified over 3,000 harmful genetic changes in the RAD51C gene that increase ovarian cancer risk six-fold and breast cancer risk four-fold. These findings can help doctors and diagnostic laboratory scientists better assess cancer risk and provide more personalized care.
A landmark study has identified novel ancestry-specific genetic variants linked to multiple sclerosis (MS) risk, offering new insights for treatment approaches. The research highlights the potential of ancestry-informed genetic studies to uncover previously unidentified risk factors for MS.
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CREME, a new AI-powered virtual laboratory, allows scientists to run thousands of virtual experiments with the click of a button to identify key regions of the genome. This breakthrough may lead to discovering new therapeutic targets and giving scientists access to cutting-edge technology without a real laboratory.
A study has revealed the genetic drivers of red pigmentation in apple flesh, highlighting the critical role of anthocyanins and flavan-3-ols. By mapping quantitative trait loci across diverse apple families, researchers identified key genetic regions linked to this vibrant coloration.
Researchers discovered 'context-only' TFs that boost enhancer activity and contribute to regulatory factor clusters, which regulate genes effectively. This finding provides a new understanding of cooperative environments that TFs create to regulate genes in health and disease.
Researchers at Nagoya University have developed a method to chemically alter siRNAs, reducing off-target effects and improving the safety of siRNA drugs for genetic therapy. By modifying the seed region of siRNAs with formamide, they achieved suppression of off-target effects with higher efficiency than existing chemical modifications.
Researchers at FAU aim to identify signatures of natural selection in the human genome, understanding its role in adaptation and disease. The $1.8 million NIH grant will develop powerful tools for complex modes of adaptation from genetic data.
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A faulty copy of the ZNRF3 gene can lead to abnormal brain growth and neurological symptoms. The study found a correlation between patients' brain size and the location of mutations in the gene.
A study by the Open Wild Wheat Consortium explains how Aegilops tauschii, a wild grass, contributed to the genetic diversity of bread wheat, enabling its rapid spread across different climates. This hybridization event allowed humans to settle down and form societies.
Researchers at St. Jude Children's Research Hospital have discovered DNA methylation patterns that help identify the root cause of developmental and epileptic encephalopathies, a condition affecting 1 in 590 children. The findings provide a new tool for diagnosing children with DEE and could lead to more effective treatments.
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