title: Male-driven de novo mutations in haploid germ cells.
abstract: 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.
authors.affiliation: Department of Biochemistry, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada J1E4K8.
authors.forename: Marie-Chantal
authors.initials: MC
authors.lastname: Grégoire
authors.forename: Julien
authors.initials: J
authors.lastname: Massonneau
authors.forename: Olivier
authors.initials: O
authors.lastname: Simard
authors.forename: Anne
authors.initials: A
authors.lastname: Gouraud
authors.forename: Marc-André
authors.initials: MA
authors.lastname: Brazeau
authors.forename: Mélina
authors.initials: M
authors.lastname: Arguin
authors.forename: Frédéric
authors.initials: F
authors.lastname: Leduc
authors.forename: Guylain
authors.initials: G
authors.lastname: Boissonneault
mesh_terms: D004249:DNA Damage / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics*; D014644:Genetic Variation; D005854:Germ Cells / Q000166:cytology*; D006238:Haploidy; D006801:Humans; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D013091:Spermatogenesis / Q000235:genetics*; D013094:Spermatozoa / Q000166:cytology* / Q000378:metabolism
keywords: DNA damage; DNA replication/repair; gene mutations; polymorphism; spermiogenesis