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.
Highlights
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
While a germline mutation will be present in all somatic cells, a postzygotic, somatic mutation can only be detected when the cell gives rise to a lineage comprising a large fraction of the cell population sampled
Somatic mutations in single cells have been detected at reporter loci[10,11], but estimates of spontaneous mutation rates based on such surrogate genes cannot be considered as representative for the genome overall
Summary
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. We present the first direct comparison of mutation rates in human and mouse single somatic cells, which are compared with human and mouse de novo germline mutation rates.
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