2,067 results found
    1. Evolutionary Biology
    2. Genetics and Genomics

    A modified fluctuation assay reveals a natural mutator phenotype that drives mutation spectrum variation within Saccharomyces cerevisiae

    Pengyao Jiang et al.
    Certain mutational signatures vary in their contribution to genetic variation across the yeast phylogeny due to genetically encoded natural mutator phenotypes whose activity can be directly measured in the lab.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Bedrock radioactivity influences the rate and spectrum of mutation

    Nathanaëlle Saclier et al.
    Subterranean isopods endemic to regions with large igneous rock formations have a higher mutation rate and display an excess of mutations that are typical of an oxidative stress.
    1. Evolutionary Biology

    Rapid evolution of the human mutation spectrum

    Kelley Harris, Jonathan K Pritchard
    Heritable mutations tend to occur within different DNA sequence contexts in different human populations, suggesting that DNA replication and repair often change in efficacy over only a few hundred generations of evolution.
    1. Genetics and Genomics
    2. Medicine

    KDM5A mutations identified in autism spectrum disorder using forward genetics

    Lauretta El Hayek et al.
    Successful autism spectrum disorder gene discovery using forward genetics identifies KDM5A, which encodes a histone H3 lysine 4 demethylase, as a disease gene.
    1. Structural Biology and Molecular Biophysics

    Unmasking coupling between channel gating and ion permeation in the muscle nicotinic receptor

    John R Strikwerda, Steven M Sine
    Mutating a highly conserved intramembrane salt bridge unmasks structural and functional coupling between channel gating and ion permeation in the muscle nicotinic receptor.
    1. Epidemiology and Global Health
    2. Genetics and Genomics

    Patterns of within-host genetic diversity in SARS-CoV-2

    Gerry Tonkin-Hill et al.
    Characterisation of within-host diversity of SARS-CoV-2 provides insights into the mutational and selective mechanisms driving its evolution and has important implications for using within-host variation to inform transmission inference efforts.
    1. Cell Biology
    2. Genetics and Genomics

    A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency

    Dana M Talsness et al.
    An ion transporter is hyperglycosylated and 50% less functional in NGLY1-deficient cells, potentially explaining several symptoms of NGLY1 deficiency such as lack of sweat and tears.
    1. Genetics and Genomics

    Quiescence unveils a novel mutational force in fission yeast

    Serge Gangloff et al.
    The quiescence-driven mutational landscape reveals replication-independent mutagenesis as a novel evolutionary force.
    1. Cell Biology
    2. Neuroscience

    Genetic defects in β-spectrin and tau sensitize C. elegans axons to movement-induced damage via torque-tension coupling

    Michael Krieg et al.
    A conceptual framework and physical model shows how actin-spectrin networks and microtubule bundles can protect axons from mechanical stress.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Universally high transcript error rates in bacteria

    Weiyi Li, Michael Lynch
    Fundamental details of the rate and molecular spectrum of transcript errors were revealed in four bacterial species, providing novel insights into transcriptional fidelity and RNA quality-control in prokaryotes.

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