Category: <span>Genetics</span>

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Computational method uncovers the effects of mutations in the noncoding genome
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Computational method uncovers the effects of mutations in the noncoding genome

by Brigham and Women’s Hospital Graphical abstract. Credit: Cell Genomics (2023). DOI: 10.1016/j.xgen.2023.100327 Less than two percent of the human genome codes for proteins, with the rest being noncoding and likely helping with gene regulation. Mutations in the noncoding genome often trigger trait changes that cause disease or disability by altering gene expression. However, it can be hard...

Study finds how a genetic variant raises diabetes risk through an unexpected mechanism
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Study finds how a genetic variant raises diabetes risk through an unexpected mechanism

by Andrea Tamayo, Broad Institute of MIT and Harvard Healthy fat cells, or adipocytes, with numerous fat deposits (green). Credit: Phil Kubitz, Claussnitzer lab Researchers have uncovered the mechanism through which a single DNA base change dramatically raises the risk of a subform of type 2 diabetes (T2D) called metabolically obese normal weight (MONW). This genetic variant,...

Researchers identify gene expression signature that predicts progression of type 1 diabetes
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Researchers identify gene expression signature that predicts progression of type 1 diabetes

by University of Turku Correlations of gene expression ratios between the baseline and 1-year follow-up samples (i.e., expression change) against zinc transporter 8 (ZnT8) autoantibody status at baseline. (a) Uniform manifold approximation and projection dimensional reduction of all gene ratios (n = 46), colored on the basis of the correlation. (b) Examples of gene ratios between the baseline...

Study: External factors shape genetic predisposition to lipids, Alzheimer’s and heart disease in MLXIPL gene
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Study: External factors shape genetic predisposition to lipids, Alzheimer’s and heart disease in MLXIPL gene

by Impact Journals LLC Univariate associations of minor alleles of four SNPs from the MLXIPL gene with AD and CHD in two samples drawn from US cohorts (A) and UK biobank (B). Credit: Aging (2023). DOI: 10.18632/aging.204665 A new research paper titled “Exogenous exposures shape genetic predisposition to lipids, Alzheimer’s, and coronary heart disease in the MLXIPL...

‘Jumping genes’ found to alter human colon genomes, offering insights into aging and tumorigenesis
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‘Jumping genes’ found to alter human colon genomes, offering insights into aging and tumorigenesis

by The Korea Advanced Institute of Science and Technology (KAIST) Genetic composition of rc-L1s is inherited from the parents. The methylation landscape of rc-L1 promoters is predominantly determined by global DNA demethylation, followed by remethylation processes in the developmental stages. Then, when an rc-L1 is promoter demethylated in a specific cell lineage, the source expresses L1...

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Artificial Intelligence Catalyzes Gene Activation Research and Uncovers Rare DNA Sequences

Posted Today Scientific demonstration with machine learning reveals ‘extreme’ genes – DNA sequences with custom-tailored activities. Artificial intelligence has exploded across our news feeds, with Chat GPT and related AI technologies becoming the focus of broad public scrutiny. Beyond popular chatbots, biologists are finding ways to leverage AI to probe the core functions of our genes....

Rethinking the protein inhibitor approach to cancer therapy
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Rethinking the protein inhibitor approach to cancer therapy

by Stony Brook University Two-step strategy for repeatable site-specific gene circuit integration. a, Network diagram of regulatory interactions and phenotypic impacts for native and ectopic BACH1. ‘BACH1e’ indicates the ectopic BACH1 gene introduced and controlled via the mNF gene circuit, whereas ‘BACH1n’ indicates the native BACH1 gene; ‘BACH1p’ indicates the BACH1 protein. The same notation applies to...

Researchers from Cold Spring Harbor Laboratory (CSHL) have recently revised the commonly held genetic assumptions about autism spectrum disorder (ASD)
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Researchers from Cold Spring Harbor Laboratory (CSHL) have recently revised the commonly held genetic assumptions about autism spectrum disorder (ASD)

By COLD SPRING HARBOR LABORATORY MAY 26, 2023 A recent study has found that siblings affected by autism inherit a greater proportion of their genetic material from their father rather than their mother. Researchers from Cold Spring Harbor Laboratory (CSHL) have recently revised the commonly held genetic assumptions about autism spectrum disorder (ASD). For many years, scientists believed that siblings diagnosed with...

Study reveals unique molecular machinery of woman who can’t feel pain
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Study reveals unique molecular machinery of woman who can’t feel pain

by University College London Credit: Unsplash/CC0 Public Domain The biology underpinning a rare genetic mutation that allows its carrier to live virtually pain-free, heal more rapidly and experience reduced anxiety and fear, has been uncovered by new research from UCL. The study, published in Brain, follows up the team’s discovery in 2019 of the FAAH-OUT gene and the...