Male-driven de novo mutations in haploid germ cells

M.-C. Gregoire, J. Massonneau, O. Simard, A. Gouraud, M.-A. Brazeau, M. Arguin, F. Leduc, G. Boissonneault
2013 Molecular human reproduction  
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
more » ... nsmittable 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.
doi:10.1093/molehr/gat022 pmid:23515669 fatcat:y5z4zntvfjhvjducwij7xxv4sm