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Similarities and differences in patterns of germline mutation between mice and humans
- Source :
- Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019), Nature Communications
- Publication Year :
- 2019
- Publisher :
- Nature Publishing Group, 2019.
-
Abstract
- 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.<br />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.
- Subjects :
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 20411723
- Volume :
- 10
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Nature Communications
- Accession number :
- edsair.doi.dedup.....a01b5182e7eab775e6e94642ac77b777