Spontaneous de novo germline mutations in humans and mice: rates, spectra, causes and consequences

研究成果: Contribution to journalArticle査読

7 被引用数 (Scopus)

抄録

Germline mutations are the origin of genetic variation and are widely considered to be the driving force of genome evolution. The rates and spectra of de novo mutations (DNMs) directly affect evolutionary speed and direction and thereby establish species-specific genomic futures in the long term. This has resulted in a keen interest in understanding the origin of germline mutations in mammals. Accumulating evidence from next-generation sequencing and family-based analysis indicates that the frequency of human DNMs varies according to sex, age and local genomic context. Thus, it is likely that there are multiple causes and drivers of mutagenesis, including spontaneous DNA lesions, DNA repair status and DNA polymerase errors. In this review, recent studies of human and mouse germline DNMs are discussed, and the rates and spectra of spontaneous germline DNMs in the mouse mutator lines Pold1exo/exo and TOY-KO (Mth1−/−/Ogg1−/−/ Mutyh−/− triple knockout) are summarized in the context of endogenous causes and mechanisms.

本文言語英語
ページ(範囲)13-22
ページ数10
ジャーナルGenes and Genetic Systems
94
1
DOI
出版ステータス出版済み - 2019

All Science Journal Classification (ASJC) codes

  • 分子生物学
  • 遺伝学

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