期刊
MOLECULAR HUMAN REPRODUCTION
卷 19, 期 8, 页码 495-499出版社
OXFORD UNIV PRESS
DOI: 10.1093/molehr/gat022
关键词
DNA damage; DNA replication; repair; spermiogenesis; polymorphism; gene mutations
资金
- Canadian Institute of Health Research [MOP-93781]
- Natural Sciences and Engineering Council of Canada [155182]
- FRQ-S (Quebec)
At the sequence level, genetic diversity is provided by de novo transmittable mutations that may act as a substrate for natural selection. The gametogenesis process itself is considered more likely to induce endogenous mutations and a clear male bias has been demonstrated from recent next-generation sequencing analyses. As new experimental evidence accumulates, the post-meiotic events of the male gametogenesis (spermiogenesis) appear as an ideal context to induce de novo genetic polymorphism transmittable to the next generation. It may prove to be a major component of the observed male mutation bias. As spermatids undergo chromatin remodeling, transient endogenous DNA double-stranded breaks are produced and trigger a DNA damage response. In these haploid cells, one would expect that the non-templated, DNA end-joining repair processes may generate a repertoire of sequence alterations in every sperm cell potentially transmittable to the next generation. This may therefore represent a novel physiological mechanism contributing to genetic diversity and evolution.
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