| RRC ID |
85555
|
| Author |
Shoji Tatsumoto, Yasuhiro Go, Kentaro Fukuta, Hideki Noguchi, Takashi Hayakawa, Masaki Tomonaga, Hirohisa Hirai, Tetsuro Matsuzawa, Kiyokazu Agata, Asao Fujiyama
|
| Title |
Direct estimation of de novo mutation rates in a chimpanzee parent-offspring trio by ultra-deep whole genome sequencing
|
| Journal |
Scientific Reports
|
| Abstract |
Mutations generate genetic variation and are a major driving force of evolution. Therefore, examining mutation rates and modes are essential for understanding the genetic basis of the physiology and evolution of organisms. Here, we aim to identify germlinede novomutations through the whole-genome surveyance of Mendelian inheritance error sites (MIEs), those not inherited through the Mendelian inheritance manner from either of the parents, using ultra-deep whole genome sequences (>150-fold) from a chimpanzee parent-offspring trio. We identified such 889 MIEs and classified them into four categories based on the pattern of inheritance and the sequence read depth: [i]de novosingle nucleotide variants (SNVs), [ii] copy number neutral inherited variants, [iii] hemizygous deletion inherited variants, and [iv]de novocopy number variants (CNVs). Fromde novoSNV candidates, we estimated a germlinede novoSNV mutation rate as 1.48 × 10−8per site per generation or 0.62 × 10−9per site per year. In summary, this study demonstrates the significance of ultra-deep whole genome sequencing not only for the direct estimation of mutation rates but also for discerning various mutation modes includingde novoallelic conversion andde novoCNVs by identifying MIEs through the transmission of genomes from parents to offspring.
|
| Volume |
7
|
| Published |
2017-11-1
|
| DOI |
10.1038/s41598-017-13919-7
|
| PMID |
29093469
|
| PMC |
PMC5666008
|
| MeSH |
Animals
DNA Copy Number Variations
Male
Mutation Rate*
Pan troglodytes / genetics*
Pedigree
Polymorphism, Single Nucleotide
Whole Genome Sequencing
|
| IF |
3.998
|
| Resource |
| GAIN |
id=337
id=334
id=336 |
