2017/05/09 by Brandon Milholland, Xiao Dong, Lei Zhang +3 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Cancer Genomics and Diagnostics #Evolution and Genetic Dynamics #Genomics and Rare Diseases
paper · pdf · doi:10.1038/ncomms15183
openalex publication_date 2017/05/09 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
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.