title: Instability of trinucleotidic repeats during chromatin remodeling in spermatids.
abstract: Transient DNA breaks and evidence of DNA damage response have recently been reported during the chromatin remodeling process in haploid spermatids, creating a potential window of enhanced genetic instability. We used flow cytometry to achieve separation of differentiating spermatids into four highly purified populations using transgenic mice harboring 160 CAG repeats within exon 1 of the human Huntington disease gene (HTT). Trinucleotic repeat expansion was found to occur immediately following the chromatin remodeling steps, confirming the genetic instability of the process and pointing to the origin of paternal anticipation observed in some trinucleotidic repeats diseases.
authors.affiliation: Department of Biochemistry, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
authors.forename: Olivier
authors.initials: O
authors.lastname: Simard
authors.forename: Marie-Chantal
authors.initials: MC
authors.lastname: Grégoire
authors.forename: Mélina
authors.initials: M
authors.lastname: Arguin
authors.forename: Marc-André
authors.initials: MA
authors.lastname: Brazeau
authors.forename: Frédéric
authors.initials: F
authors.lastname: Leduc
authors.forename: Isabelle
authors.initials: I
authors.lastname: Marois
authors.forename: Martin V
authors.initials: MV
authors.lastname: Richter
authors.forename: Guylain
authors.initials: G
authors.lastname: Boissonneault
mesh_terms: D000818:Animals; D042002:Chromatin Assembly and Disassembly; D005434:Flow Cytometry; D042822:Genomic Instability; D008297:Male; D051379:Mice; D013087:Spermatids / Q000378:metabolism*; D013091:Spermatogenesis / Q000235:genetics; D019680:Trinucleotide Repeat Expansion; D018911:Trinucleotide Repeats
keywords: HTT; Huntington; Huntington disease; double-strand break; genetic instability; spermatid chromatin remodeling; trinucleotide expansion