Single-nucleotide mutation rate increases close to insertions/deletions in eukaryotes

Dacheng Tian (), Qiang Wang, Pengfei Zhang, Hitoshi Araki, Sihai Yang, Martin Kreitman, Thomas Nagylaki, Richard Hudson, Joy Bergelson and Jian-Qun Chen ()
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Dacheng Tian: State Key Laboratory of Pharmaceutical Biotechnology, Nanjing University
Qiang Wang: State Key Laboratory of Pharmaceutical Biotechnology, Nanjing University
Pengfei Zhang: State Key Laboratory of Pharmaceutical Biotechnology, Nanjing University
Hitoshi Araki: State Key Laboratory of Pharmaceutical Biotechnology, Nanjing University
Sihai Yang: State Key Laboratory of Pharmaceutical Biotechnology, Nanjing University
Martin Kreitman: University of Chicago, Chicago, Illinois 60637, USA
Thomas Nagylaki: University of Chicago, Chicago, Illinois 60637, USA
Richard Hudson: University of Chicago, Chicago, Illinois 60637, USA
Joy Bergelson: State Key Laboratory of Pharmaceutical Biotechnology, Nanjing University
Jian-Qun Chen: State Key Laboratory of Pharmaceutical Biotechnology, Nanjing University

Nature, 2008, vol. 455, issue 7209, 105-108

Abstract: Mutation hotspots: the role of insertions and deletions Recent genomic efforts have demonstrated that large chunks of DNA differ between individuals in many species, and that the differences are focused on mutation hot-spots. Six pairwise comparisons of the distributions of single nucleotide substitutions around insertions and deletions ('indels') using ten genomes including yeast, rice, fly, rodent and primate show that the level of genetic variation is strongly and negatively correlated with the distance from indels in all the comparisons. Furthermore, the size and abundance of indels significantly influences the level of local nucleotide diversity. This work suggests that indels are a common mechanism to induce mutations, and may play an important role in genome evolution.

Date: 2008
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DOI: 10.1038/nature07175

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