期刊
NATURE COMMUNICATIONS
卷 8, 期 -, 页码 -出版社
NATURE PORTFOLIO
DOI: 10.1038/s41467-017-00323-y
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资金
- Wellcome Trust [WT102627, WT098051, WT101597]
- National Institute for Health Research (NIHR) under its Collaboration for Applied Health Research and Care (CLAHRC)
- MRC [MR/M009017/1] Funding Source: UKRI
- Medical Research Council [MR/M009017/1] Funding Source: researchfish
Heterozygous mutations within homozygous sequences descended from a recent common ancestor offer a way to ascertain de novo mutations across multiple generations. Using exome sequences from 3222 British-Pakistani individuals with high parental relatedness, we estimate a mutation rate of 1.45 +/- 0.05 x 10(-8) per base pair per generation in autosomal coding sequence, with a corresponding non-crossover gene conversion rate of 8.75 +/- 0.05 x 10(-6) per base pair per generation. This is at the lower end of exome mutation rates previously estimated in parent-offspring trios, suggesting that post-zygotic mutations contribute little to the human germ-line mutation rate. We find frequent recurrence of mutations at polymorphic CpG sites, and an increase in C to T mutations in a 5' CCG 3' to 5' CTG 3' context in the Pakistani population compared to Europeans, suggesting that mutational processes have evolved rapidly between human populations.
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