Similarities and differences in patterns of germline mutation between mice and humans
| Autor: | Raheleh Rahbari, Joanna Kaplanis, Sarah J. Lindsay, Matthew E. Hurles, Thomas M. Keane |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Male
0301 basic medicine Mutation rate Offspring Science Embryonic Development General Physics and Astronomy Pedigree chart 02 engineering and technology Biology Article Gametogenesis Paternal Age General Biochemistry Genetics and Molecular Biology Germline Mice 03 medical and health sciences Germline mutation Mutation Rate Species Specificity Animals Humans Genetic variation lcsh:Science Germ-Line Mutation Genetics Genome Multidisciplinary Mutation Spectra Whole Genome Sequencing Embryo General Chemistry 021001 nanoscience & nanotechnology Pedigree Germ Cells 030104 developmental biology Mutation Mutation (genetic algorithm) Female lcsh:Q 0210 nano-technology Cell Division Maternal Age |
| Zdroj: | Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019) Nature Communications |
| ISSN: | 2041-1723 |
| Popis: | Whole genome sequencing (WGS) studies have estimated the human germline mutation rate per basepair per generation (~1.2 × 10−8) to be higher than in mice (3.5–5.4 × 10−9). In humans, most germline mutations are paternal in origin and numbers of mutations per offspring increase with paternal and maternal age. Here we estimate germline mutation rates and spectra in six multi-sibling mouse pedigrees and compare to three multi-sibling human pedigrees. In both species we observe a paternal mutation bias, a parental age effect, and a highly mutagenic first cell division contributing to the embryo. We also observe differences between species in mutation spectra, in mutation rates per cell division, and in the parental bias of mutations in early embryogenesis. These differences between species likely result from both species-specific differences in cellular genealogies of the germline, as well as biological differences within the same stage of embryogenesis or gametogenesis. Estimates of mutation rates differ between species. Here, Lindsay et al. perform side-by-side analyses of germline mutation rates using multi-sibling mouse and human pedigrees and find different mutation rates between species, also stratified by sex and temporal stage of mutation acquisition. |
| Databáze: | OpenAIRE |
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