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PLoS Genet. 2016 Nov 15;12(11):e1006315. doi: 10.1371/journal.pgen.1006315. eCollection 2016 Nov.

Multi-nucleotide de novo Mutations in Humans.

Author information

1
Department of Molecular Medicine, Aarhus University, Denmark.
2
deCODE genetics/Amgen, Inc., Iceland.
3
Department of Anthropology, University of Iceland, Iceland.
4
School of Engineering and Natural Sciences, University of Iceland, Iceland.
5
Faculty of Medicine, University of Iceland, Iceland.

Abstract

Mutation of the DNA molecule is one of the most fundamental processes in biology. In this study, we use 283 parent-offspring trios to estimate the rate of mutation for both single nucleotide variants (SNVs) and short length variants (indels) in humans and examine the mutation process. We found 17812 SNVs, corresponding to a mutation rate of 1.29 × 10-8 per position per generation (PPPG) and 1282 indels corresponding to a rate of 9.29 × 10-10 PPPG. We estimate that around 3% of human de novo SNVs are part of a multi-nucleotide mutation (MNM), with 558 (3.1%) of mutations positioned less than 20kb from another mutation in the same individual (median distance of 525bp). The rate of de novo mutations is greater in late replicating regions (p = 8.29 × 10-19) and nearer recombination events (p = 0.0038) than elsewhere in the genome.

PMID:
27846220
PMCID:
PMC5147774
DOI:
10.1371/journal.pgen.1006315
[Indexed for MEDLINE]
Free PMC Article

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