Male-driven de novo mutations in haploid germ cells.

  • Date de publication : 2013-07-17


Grégoire MC, Massonneau J, Simard O, Gouraud A, Brazeau MA, Arguin M, Leduc F, Boissonneault G. Male-driven de novo mutations in haploid germ cells. Mol. Hum. Reprod. 2013;19:495-9. doi: 10.1093/molehr/gat022. PubMed PMID: 23515669.

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Mot(s) Clé(s)

dna damage dna repair genetic variation germ cells haploidy humans male mutation polymorphism, genetic spermatogenesis spermatozoa


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.