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Genes 2019, 10(1), 40;

Genetic Instability and Chromatin Remodeling in Spermatids

Department of Biochemistry, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC J1E4K8, Canada
Author to whom correspondence should be addressed.
Received: 27 December 2018 / Revised: 4 January 2019 / Accepted: 8 January 2019 / Published: 14 January 2019
(This article belongs to the Special Issue Male Germline Chromatin)
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The near complete replacement of somatic chromatin in spermatids is, perhaps, the most striking nuclear event known to the eukaryotic domain. The process is far from being fully understood, but research has nevertheless unraveled its complexity as an expression of histone variants and post-translational modifications that must be finely orchestrated to promote the DNA topological change and compaction provided by the deposition of protamines. That this major transition may not be genetically inert came from early observations that transient DNA strand breaks were detected in situ at chromatin remodeling steps. The potential for genetic instability was later emphasized by our demonstration that a significant number of DNA double-strand breaks (DSBs) are formed and then repaired in the haploid context of spermatids. The detection of DNA breaks by 3′OH end labeling in the whole population of spermatids suggests that a reversible enzymatic process is involved, which differs from canonical apoptosis. We have set the stage for a better characterization of the genetic impact of this transition by showing that post-meiotic DNA fragmentation is conserved from human to yeast, and by providing tools for the initial mapping of the genome-wide DSB distribution in the mouse model. Hence, the molecular mechanism of post-meiotic DSB formation and repair in spermatids may prove to be a significant component of the well-known male mutation bias. Based on our recent observations and a survey of the literature, we propose that the chromatin remodeling in spermatids offers a proper context for the induction of de novo polymorphism and structural variations that can be transmitted to the next generation. View Full-Text
Keywords: spermiogenesis; chromatin remodeling; DNA double-strand breaks; genetic instability; mutations spermiogenesis; chromatin remodeling; DNA double-strand breaks; genetic instability; mutations
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Cavé, T.; Desmarais, R.; Lacombe-Burgoyne, C.; Boissonneault, G. Genetic Instability and Chromatin Remodeling in Spermatids. Genes 2019, 10, 40.

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