Germline mutation: De novo mutation in reproductive lineage cells

研究成果: ジャーナルへの寄稿記事

抄録

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.

元の言語英語
ページ(範囲)3-12
ページ数10
ジャーナルGenes and Genetic Systems
94
発行部数1
DOI
出版物ステータス出版済み - 1 1 2019

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Germ-Line Mutation
Mutation Rate
Genome
Mutation
Cell Division
Genome Size
Cell Lineage
Chromosomes

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics

これを引用

Germline mutation : De novo mutation in reproductive lineage cells. / Sakumi, Kunihiko.

:: Genes and Genetic Systems, 巻 94, 番号 1, 01.01.2019, p. 3-12.

研究成果: ジャーナルへの寄稿記事

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