| Literature DB >> 25136821 |
Olivier Simard1, Marie-Chantal Grégoire, Mélina Arguin, Marc-André Brazeau, Frédéric Leduc, Isabelle Marois, Martin V Richter, Guylain Boissonneault.
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.Entities:
Keywords: HTT; Huntington; Huntington disease; double-strand break; genetic instability; spermatid chromatin remodeling; trinucleotide expansion
Mesh:
Year: 2014 PMID: 25136821 DOI: 10.1002/humu.22637
Source DB: PubMed Journal: Hum Mutat ISSN: 1059-7794 Impact factor: 4.878