Differences between germline and somatic mutation rates in humans and mice

Brandon Milholland, Xiao Dong, Lei Zhang, Xiaoxiao Hao, Yousin Suh, Jan Vijg

Research output: Contribution to journalArticlepeer-review

241 Scopus citations


The germline mutation rate has been extensively studied and has been found to vary greatly between species, but much less is known about the somatic mutation rate in multicellular organisms, which remains very difficult to determine. Here, we present data on somatic mutation rates in mice and humans, obtained by sequencing single cells and clones derived from primary fibroblasts, which allows us to make the first direct comparison with germline mutation rates in these two species. The results indicate that the somatic mutation rate is almost two orders of magnitude higher than the germline mutation rate and that both mutation rates are significantly higher in mice than in humans. Our findings demonstrate both the privileged status of germline genome integrity and species-specific differences in genome maintenance.

Original languageEnglish (US)
Article number15183
JournalNature communications
StatePublished - May 9 2017
Externally publishedYes

Bibliographical note

Funding Information:
This research was supported by National Institutes of Health grants AG017242 and AG047200 and a grant from the Glenn Foundation for Medical Research.

Publisher Copyright:
© 2017 The Author(s).


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