Striking differences in patterns of germline mutation between mice and humans

摘要: Little is known about differences in germline mutation processes between extant mammals. We analysed genome sequences of mouse and human pedigrees to investigate mutational these species. found that while the generational rate mice 40% humans, annual 16 times higher, per cell division two-fold higher. classified mutations into four temporal strata reflecting timing within lineage from zygote gamete. The earliest embryonic divisions are most mutagenic both species, but account for a much higher proportion all (~25%) than humans (~5%). observed strong sex bias number arising subsequent early embryo mice, not humans. Finally, we reconstructed partial genealogies murine parental gametes suggest markedly unequal contributions founding primordial germ cells.