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Theoretical framework of population genetics with somatic mutations taken into account: application to copy number variations in humans
https://ir.soken.ac.jp/records/4508
https://ir.soken.ac.jp/records/45084e4b1e04-eda0-4b63-b725-83bae155d71c
| Item type | 学術雑誌論文 / Journal Article(1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| 公開日 | 2014-05-14 | |||||||||
| タイトル | ||||||||||
| タイトル | Theoretical framework of population genetics with somatic mutations taken into account: application to copy number variations in humans | |||||||||
| タイトル | ||||||||||
| タイトル | Theoretical framework of population genetics with somatic mutations taken into account: application to copy number variations in humans | |||||||||
| 言語 | en | |||||||||
| 言語 | ||||||||||
| 言語 | eng | |||||||||
| 資源タイプ | ||||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||||||
| 資源タイプ | journal article | |||||||||
| アクセス権 | ||||||||||
| アクセス権 | metadata only access | |||||||||
| アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||||||
| 著者 |
EZAWA, Kiyoshi
× EZAWA, Kiyoshi
× INNAN, Hideki
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| 著者別名 |
印南, 秀樹
× 印南, 秀樹
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| 抄録 | ||||||||||
| 内容記述タイプ | Abstract | |||||||||
| 内容記述 | Traditionally, population genetics focuses on the dynamics of frequencies of alleles acquired by mutations on germ-lines, because only such mutations are heritable. Typical genotyping experiments, however, use DNA from some somatic tissues such as blood, which harbors somatic mutations at the current generation in addition to germ-line mutations accumulated since the most recent common ancestor of the sample. This common practice may sometimes cause erroneous interpretations of polymorphism data, unless we properly understand the role of somatic mutations in population genetics. We here introduce a very basic theoretical framework of population genetics with somatic mutations taken into account. It is easy to imagine that somatic mutations at the current generation simply add individual-specific variations, as errors in mutation detection do. Our theory quantifies this increment under various conditions. We find that the major contribution of somatic mutations plus errors is to very rare variants, particularly to singletons. The relative contribution is markedly large when mutations are deleterious. Because negative selection also increases rare variants, it is important to distinguish the roles of these mutually confounding factors when we interpret the data, even after correcting for demography. We apply this theory to human copy number variations (CNVs), for which the composite effect of somatic mutations and errors may not be negligible. Using genome-wide CNV data, we demonstrate how the joint action of the two factors, selection and somatic mutations plus errors, shapes the observed pattern of polymorphism. | |||||||||
| 書誌情報 |
Heredity en : Heredity 巻 111, p. 364-374, 発行日 2013-11 |
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| 出版者 | ||||||||||
| 出版者 | Nature Publishing Group | |||||||||
| ISSN | ||||||||||
| 収録物識別子タイプ | ISSN | |||||||||
| 収録物識別子 | 0018067X | |||||||||
| DOI | ||||||||||
| 識別子タイプ | DOI | |||||||||
| 関連識別子 | https://doi.org/10.1038/hdy.2013.59 | |||||||||
| 関連名称 | 10.1038/hdy.2013.59 | |||||||||
| 権利 | ||||||||||
| 権利情報 | © 2013 The Genetics Society | |||||||||
