7,666 results found
    1. Evolutionary Biology

    Selection on mutators is not frequency-dependent

    Yevgeniy Raynes, Daniel Weinreich
    Contrary to intuition that the evolutionary fate of mutation rate modifying alleles is frequency-dependent, neither the strength nor the sign of selection on modifiers depends on initial frequency.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Epistasis between mutator alleles contributes to germline mutation spectrum variability in laboratory mice

    Thomas A Sasani, Aaron R Quinlan, Kelley Harris
    Germline mutation rates in mice are shaped by two mutator alleles that interact epistatically, showing that DNA repair defects that map to different loci can have snowballing effects.
    1. Chromosomes and Gene Expression
    2. Immunology and Inflammation

    Active RNAP pre-initiation sites are highly mutated by cytidine deaminases in yeast, with AID targeting small RNA genes

    Benjamin JM Taylor, Yee Ling Wu, Cristina Rada
    Transcribed promoters are highly susceptible to mutation by cytidine deaminases, implicating stable exposure of single stranded DNA structures, rather than cofactors, in localising mutation during tumourigenesis and antibody maturation.
    1. Evolutionary Biology

    Moderate nucleotide diversity in the Atlantic herring is associated with a low mutation rate

    Chungang Feng, Mats Pettersson ... Leif Andersson
    The Atlantic herring has the lowest mutation rate yet estimated in a vertebrate species and this partially explains its moderate nucleotide diversity given the large population size.
    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, Anja R Ollodart ... Kelley Harris
    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

    Limited role of generation time changes in driving the evolution of the mutation spectrum in humans

    Ziyue Gao, Yulin Zhang ... Priya Moorjani
    A new framework for mutation spectrum analysis reveals multiple independent changes in the germline mutation patterns of human populations, which cannot be explained by shifts in average ages at reproduction.
    1. Evolutionary Biology
    2. Genetics and Genomics

    The Mutationathon highlights the importance of reaching standardization in estimates of pedigree-based germline mutation rates

    Lucie A Bergeron, Søren Besenbacher ... Mikkel H Schierup
    This first comparison of different methodologies to estimate germline mutation rate from pedigrees resulted in almost a 2-fold variation in the estimated rates, discrepancies mainly caused by different filtering methods.
    1. Developmental Biology

    A human mitofusin 2 mutation can cause mitophagic cardiomyopathy

    Antonietta Franco, Jiajia Li ... Gerald W Dorn
    A rare human mitofusin (MFN) 2 mutation that uniquely impaired Parkin-mediated mitophagy evoked developmental heart disease and increased myocardial sensitivity to doxorubicin in mice, differentiating it from mitophagy-competent MFN2 mutations that cause neuropathy and implicating mitophagy in clinical cardiomyopathy.
    1. Chromosomes and Gene Expression

    Histone H3G34R mutation causes replication stress, homologous recombination defects and genomic instability in S. pombe

    Rajesh K Yadav, Carolyn M Jablonowski ... Janet F Partridge
    Mutation of Glycine 34 to Arginine within the N-terminal tail of histone H3 alters post-translational modifications on Lysine 36 and is associated with a delay in replication restart, defective homologous recombination and an increase in genomic instability.
    1. Cancer Biology
    2. Computational and Systems Biology

    5-hydroxymethylcytosine marks regions with reduced mutation frequency in human DNA

    Marketa Tomkova, Michael McClellan ... Benjamin Schuster-Boeckler
    Different types of epigenetic DNA modifications affect the likelihood of cytosine mutations in cancer.

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