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Instability of Trinucleotidic Repeats During Chromatin Remodeling in Spermatids
Author(s) -
Simard Olivier,
Grégoire MarieChantal,
Arguin Mélina,
Brazeau MarcAndré,
Leduc Frédéric,
Marois Isabelle,
Richter Martin V.,
Boissonneault Guylain
Publication year - 2014
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22637
Subject(s) - biology , chromatin remodeling , chromatin , trinucleotide repeat expansion , genome instability , transgene , genetics , anticipation (artificial intelligence) , microbiology and biotechnology , gene , dna , dna damage , allele , artificial intelligence , computer science
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 H untington 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.