Reduced mutation rate in exons due to differential mismatch repair.
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ABSTRACT:
SUBMITTER: Frigola J
PROVIDER: S-EPMC5712219 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Publications
Reduced mutation rate in exons due to differential mismatch repair.
Frigola Joan J Sabarinathan Radhakrishnan R Mularoni Loris L Muiños Ferran F Gonzalez-Perez Abel A López-Bigas Núria N
Nature genetics 20171106 12
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 underst ...[more]
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