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タイトル: | Direct estimation of de novo mutation rates in a chimpanzee parent-offspring trio by ultra-deep whole genome sequencing |
その他のタイトル: | チンパンジー親子トリオを用いた超高精度全ゲノム配列決定による新規変異率の直接推定 |
著者: | Tatsumoto, Shoji Go, Yasuhiro Fukuta, Kentaro Noguchi, Hideki Hayakawa, Takashi Tomonaga, Masaki https://orcid.org/0000-0002-9319-6991 (unconfirmed) Hirai, Hirohisa Matsuzawa, Tetsuro Agata, Kiyokazu Fujiyama, Asao |
著者名の別形: | 辰本, 将司 郷, 康広 福多, 賢太郎 野口, 英樹 早川, 卓志 友永, 雅己 平井, 啓久 松沢, 哲郎 阿形, 清和 藤山, 秋佐夫 |
キーワード: | Evolutionary genetics Genome evolution Next-generation sequencing Rare variants |
発行日: | 1-Nov-2017 |
出版者: | Springer Nature |
誌名: | Scientific Reports |
巻: | 7 |
論文番号: | 13561 |
抄録: | 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 germline de novo mutations 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 novo single nucleotide variants (SNVs), [ii] copy number neutral inherited variants, [iii] hemizygous deletion inherited variants, and [iv] de novo copy number variants (CNVs). From de novo SNV candidates, we estimated a germline de novo SNV mutation rate as 1.48 × 10−8 per site per generation or 0.62 × 10−9 per 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 including de novo allelic conversion and de novo CNVs by identifying MIEs through the transmission of genomes from parents to offspring. |
記述: | チンパンジー親子トリオ(父親-母親-息子)の 全ゲノム配列を高精度で解明. 京都大学プレスリリース. 2017-11-02. |
著作権等: | © The Author(s) 2017. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
URI: | http://hdl.handle.net/2433/227751 |
DOI(出版社版): | 10.1038/s41598-017-13919-7 |
PubMed ID: | 29093469 |
関連リンク: | https://www.kyoto-u.ac.jp/ja/research-news/2017-11-02 |
出現コレクション: | 学術雑誌掲載論文等 |
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