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Nat Commun. 2017 May 9;8:15183. doi: 10.1038/ncomms15183.

Differences between germline and somatic mutation rates in humans and mice.

Author information

1
Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Bronx, New York 10461, USA.
2
Department of Ophthalmology &Visual Sciences, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Bronx, New York 10461, USA.
3
Department of Medicine, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Bronx, New York 10461, USA.

Abstract

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.

PMID:
28485371
PMCID:
PMC5436103
DOI:
10.1038/ncomms15183
[Indexed for MEDLINE]
Free PMC Article

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