Germline mutation : de novo mutation in reproductive lineage cells
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- Sakumi Kunihiko
- Division of Neurofunctional Genomics, Medical Institute of Bioregulation, Kyushu University
書誌事項
- タイトル別名
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- Germline mutation: <i>de novo</i> mutation in reproductive lineage cells
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<p>Next-generation sequencing (NGS) has been used to determine the reference sequences of model organisms. This allows us to identify mutations by the chromosome number and sequence position where the base sequence has been altered, independent of any phenotypic alteration. Because the re-sequencing method by NGS covers all of the genome, it enables detection of the small number of spontaneous de novo germline mutations that occur in the reproductive lineage. The spontaneous mutation rate varies depending on the environment; for example, it increases when 8-oxoguanine accumulates. If the mutation rate (per replication) is greater than 1/genome size (2n), at least one mutation would generally occur in each cell division on average, producing cells with a different genome from the parent cell. Organisms with larger genomes and more divisions by cells in the reproductive lineage are expected to show higher mutation rates per generation, if the mutation rate per replication is constant among species. The accumulation of mutations that arose in the genome of ancestor cells has resulted in heterogeneity and diversity among extant species. In this sense, the ability to produce mutations in cells of the reproductive lineage can be considered as a key feature of organisms, even if mutations also present an unavoidable risk.</p>
収録刊行物
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- Genes & Genetic Systems
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Genes & Genetic Systems 94 (1), 3-12, 2019-02-01
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詳細情報 詳細情報について
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- CRID
- 1390845713076794240
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- NII論文ID
- 130007625027
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- NII書誌ID
- AA11077421
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- ISSN
- 18805779
- 13417568
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- NDL書誌ID
- 029670548
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- PubMed
- 30905890
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- NDL
- Crossref
- PubMed
- CiNii Articles
- KAKEN
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- 抄録ライセンスフラグ
- 使用不可