期刊
NATURE GENETICS
卷 49, 期 12, 页码 1684-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3991
关键词
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资金
- Spanish Ministry of Economy and Competitiveness (MINECO/FEDER, UE) [SAF2015-66084-R]
- La Fundacio la Marato de TV3
- EU H2020 Programme [634143]
- European Research Council [682398]
- Spanish Ministry of Economy and Competitiveness (MINECO
- Government of Spain)
- CERCA (Generalitat de Catalunya)
- EMBO Long-Term Fellowship [ALTF 568-2014]
- European Commission (EMBOCOFUND) [GA-2012-600394]
- Marie Curie Actions
- Spanish Ministry of Economy and Competitiveness [RYC-2013-14554]
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.
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