Instability of Trinucleotidic Repeats During Chromatin Remodeling in Spermatids
Olivier Simard
Department of Biochemistry, Université de Sherbrooke, Sherbrooke, Quebec, Canada
Search for more papers by this authorMarie-Chantal Grégoire
Department of Biochemistry, Université de Sherbrooke, Sherbrooke, Quebec, Canada
Search for more papers by this authorMélina Arguin
Department of Biochemistry, Université de Sherbrooke, Sherbrooke, Quebec, Canada
Search for more papers by this authorMarc-André Brazeau
Department of Biochemistry, Université de Sherbrooke, Sherbrooke, Quebec, Canada
Search for more papers by this authorFrédéric Leduc
Department of Biochemistry, Université de Sherbrooke, Sherbrooke, Quebec, Canada
Search for more papers by this authorIsabelle Marois
Department of Medicine, Université de Sherbrooke, Sherbrooke, Quebec, Canada
Search for more papers by this authorMartin V. Richter
Department of Medicine, Université de Sherbrooke, Sherbrooke, Quebec, Canada
Search for more papers by this authorCorresponding Author
Guylain Boissonneault
Department of Biochemistry, Université de Sherbrooke, Sherbrooke, Quebec, Canada
Correspondence to: Guylain Boissonneault, Université de Sherbrooke Biochemistry, Faculty of Medicine, 3001 North 12th Ave, Sherbrooke, Quebec J1H5N4, Canada. E-mail: [email protected]Search for more papers by this authorOlivier Simard
Department of Biochemistry, Université de Sherbrooke, Sherbrooke, Quebec, Canada
Search for more papers by this authorMarie-Chantal Grégoire
Department of Biochemistry, Université de Sherbrooke, Sherbrooke, Quebec, Canada
Search for more papers by this authorMélina Arguin
Department of Biochemistry, Université de Sherbrooke, Sherbrooke, Quebec, Canada
Search for more papers by this authorMarc-André Brazeau
Department of Biochemistry, Université de Sherbrooke, Sherbrooke, Quebec, Canada
Search for more papers by this authorFrédéric Leduc
Department of Biochemistry, Université de Sherbrooke, Sherbrooke, Quebec, Canada
Search for more papers by this authorIsabelle Marois
Department of Medicine, Université de Sherbrooke, Sherbrooke, Quebec, Canada
Search for more papers by this authorMartin V. Richter
Department of Medicine, Université de Sherbrooke, Sherbrooke, Quebec, Canada
Search for more papers by this authorCorresponding Author
Guylain Boissonneault
Department of Biochemistry, Université de Sherbrooke, Sherbrooke, Quebec, Canada
Correspondence to: Guylain Boissonneault, Université de Sherbrooke Biochemistry, Faculty of Medicine, 3001 North 12th Ave, Sherbrooke, Quebec J1H5N4, Canada. E-mail: [email protected]Search for more papers by this authorCommunicated by Andrew Wilkie
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.
Supporting Information
Disclaimer: Supplementary materials have been peer-reviewed but not copyedited.
Filename | Description |
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humu22637-sup-0001-figureS1.pdf380.5 KB | Figure S1. TNR expansion analysis of a second B6CBA-Tg(HDexon1)62Gpb/1J mouse. A) Visualization of the distribution of the length of normalized and quantified CAG repeats from each sorted population. B) Histogram representing the area under each peak of CAG repeats. The percentage of difference of the relative intensity from 145 to 165 CAG repeats between the steps 15–16 and 3–14 spermatids is represented (inset). Sorted populations are color-coded. S1–9: steps 1–9 spermatids, S10–12: steps 10–12 spermatids, S13–14: steps 13–14 spermatids, S15–16: steps 15–16 spermatids. Cell drawings are from Russell 1990. |
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