Instability of trinucleotidic repeats during chromatin remodeling in spermatids

Olivier Simard; Marie Chantal Grégoire; Mélina Arguin; Marc André Brazeau; Frédéric Leduc; Isabelle Marois; Martin V. Richter; Guylain Boissonneault

doi:10.1002/humu.22637

Instability of trinucleotidic repeats during chromatin remodeling in spermatids

Olivier Simard, Marie Chantal Grégoire, Mélina Arguin, Marc André Brazeau, Frédéric Leduc, Isabelle Marois, Martin V. Richter, Guylain Boissonneault

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	1280-1284
Number of pages	5
Journal	Human Mutation
Volume	35
Issue number	11
DOIs	https://doi.org/10.1002/humu.22637
Publication status	Published - 1 Nov 2014
Externally published	Yes

Keywords

Double-strand break
Genetic instability
HTT
Huntington
Huntington disease
Spermatid chromatin remodeling
Trinucleotide expansion

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1002/humu.22637

Cite this

@article{5ee1d040cb5f4d72b20bfc46a6d3cd32,

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.",

keywords = "Double-strand break, Genetic instability, HTT, Huntington, Huntington disease, Spermatid chromatin remodeling, Trinucleotide expansion",

author = "Olivier Simard and Gr{\'e}goire, \{Marie Chantal\} and M{\'e}lina Arguin and Brazeau, \{Marc Andr{\'e}\} and Fr{\'e}d{\'e}ric Leduc and Isabelle Marois and Richter, \{Martin V.\} and Guylain Boissonneault",

note = "Publisher Copyright: {\textcopyright} 2014 WILEY PERIODICALS, INC.",

year = "2014",

month = nov,

day = "1",

doi = "10.1002/humu.22637",

language = "English",

volume = "35",

pages = "1280--1284",

journal = "Human Mutation",

issn = "1059-7794",

number = "11",

}

TY - JOUR

T1 - Instability of trinucleotidic repeats during chromatin remodeling in spermatids

AU - Simard, Olivier

AU - Grégoire, Marie Chantal

AU - Arguin, Mélina

AU - Brazeau, Marc André

AU - Leduc, Frédéric

AU - Marois, Isabelle

AU - Richter, Martin V.

AU - Boissonneault, Guylain

PY - 2014/11/1

Y1 - 2014/11/1

N2 - 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.

AB - 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.

KW - Double-strand break

KW - Genetic instability

KW - HTT

KW - Huntington

KW - Huntington disease

KW - Spermatid chromatin remodeling

KW - Trinucleotide expansion

UR - https://www.scopus.com/pages/publications/84918555013

U2 - 10.1002/humu.22637

DO - 10.1002/humu.22637

M3 - Article

C2 - 25136821

AN - SCOPUS:84918555013

SN - 1059-7794

VL - 35

SP - 1280

EP - 1284

JO - Human Mutation

JF - Human Mutation

IS - 11

ER -

Instability of trinucleotidic repeats during chromatin remodeling in spermatids

Abstract

Keywords

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this