Reduced mutation rate in exons due to differential mismatch repair View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-12

AUTHORS

Joan Frigola, Radhakrishnan Sabarinathan, Loris Mularoni, Ferran Muiños, Abel Gonzalez-Perez, Núria López-Bigas

ABSTRACT

While recent studies have identified higher than anticipated heterogeneity of mutation rate across genomic regions, mutations in exons and introns are assumed to be generated at the same rate. Here we find fewer somatic mutations in exons than expected from their sequence content and demonstrate that this is not due to purifying selection. Instead, we show that it is caused by higher mismatch-repair activity in exonic than in intronic regions. Our findings have important implications for understanding of mutational and DNA repair processes and knowledge of the evolution of eukaryotic genes, and they have practical ramifications for the study of evolution of both tumors and species. More... »

PAGES

1684

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.3991

    DOI

    http://dx.doi.org/10.1038/ng.3991

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1092547754

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29106418


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