Male-driven de novo mutations in haploid germ cells

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...

Full description

Saved in:
Bibliographic Details
Published in:Molecular human reproduction 2013-08, Vol.19 (8), p.495-499
Main Authors: Grégoire, Marie-Chantal, Massonneau, Julien, Simard, Olivier, Gouraud, Anne, Brazeau, Marc-André, Arguin, Mélina, Leduc, Frédéric, Boissonneault, Guylain
Format: Article
Language:English
Subjects:
DNA Damage - genetics
DNA Repair - genetics
Genetic Variation
Germ Cells - cytology
Haploidy
Humans
Male
Mutation
Polymorphism, Genetic
Spermatogenesis - genetics
Spermatozoa - cytology
Spermatozoa - metabolism
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1360-9947
1460-2407
DOI:10.1093/molehr/gat022