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Nat Genet. 2017 Dec;49(12):1684-1692. doi: 10.1038/ng.3991. Epub 2017 Nov 6.

Reduced mutation rate in exons due to differential mismatch repair.

Author information

1
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
2
Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Spain.
3
Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.

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.

PMID:
29106418
PMCID:
PMC5712219
DOI:
10.1038/ng.3991
[Indexed for MEDLINE]
Free PMC Article

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