Torsional stress promotes trinucleotidic expansion in spermatids

Bano, 2011, Neurodegenerative processes in Huntington’s disease, Cell Death Dis., 2, e228, 10.1038/cddis.2011.112 McMurray, 2010, Mechanisms of trinucleotide repeat instability during human development, Nat. Rev. Genet., 11, 786, 10.1038/nrg2828 Shoulson, 2011, Milestones in huntington disease, Mov. Disord., 26, 1127, 10.1002/mds.23685 Walker, 2007, Huntington’s disease, Lancet J., 369, 218, 10.1016/S0140-6736(07)60111-1 Liu, 2012, Instability of (CTG)n * (CAG)n trinucleotide repeats and DNA synthesis, Cell Biosci., 2, 7, 10.1186/2045-3701-2-7 Usdin, 2015, Repeat instability during DNA repair: insights from model systems, Crit. Rev. Biochem. Mol. Biol., 9238, 1 Lin, 2009, Transcription destabilizes triplet repeats, Mol. Carcinog., 48, 350, 10.1002/mc.20488 Liu, 2012, DNA base excision repair: a mechanism of trinucleotide repeat expansion, Trends Biochem. Sci., 1–11 Gacy, 1995, Trinucleotide repeats that expand in human disease form hairpin structures in vitro, Cell, 81, 533, 10.1016/0092-8674(95)90074-8 Kovtun, 2001, Structural features of trinucleotide repeats associated with DNA expansion, Biochem. Cell Biol., 79, 325, 10.1139/o01-101 McMurray, 1999, DNA secondary structure: a common and causative factor for expansion in human disease, Proc. Natl. Acad. Sci. U. S. A., 96, 1823, 10.1073/pnas.96.5.1823 McMurray, 2008, Hijacking of the mismatch repair system to cause CAG expansion and cell death in neurodegenerative disease, DNA Rep. (Amst.), 7, 1121, 10.1016/j.dnarep.2008.03.013 Kovtun, 2001, Trinucleotide expansion in haploid germ cells by gap repair, Nat. Genet., 27, 407, 10.1038/86906 Pearson, 1997, Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases, Hum. Mol. Genet., 6, 1117, 10.1093/hmg/6.7.1117 Manley, 1999, Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice, Nat. Genet., 23, 471, 10.1038/70598 Owen, 2005, (CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition, Nat. Struct. Mol. Biol, 12, 663, 10.1038/nsmb965 Møllersen, 2010, Continuous and periodic expansion of CAG repeats in Huntington’s disease R6/1 mice, PLoS Genet., 6, e1001242, 10.1371/journal.pgen.1001242 Pratte, 2015, Anticipation in myotonic dystrophy type 1 parents with small CTG expansions, Am. J. Med. Genet. Part A, 167, 708, 10.1002/ajmg.a.36950 Stevanin, 1998, De novo expansion of intermediate alleles in spinocerebellar ataxia 7, Hum. Mol. Genet., 7, 1809, 10.1093/hmg/7.11.1809 Wheeler, 2007, Factors associated with HD CAG repeat instability in Huntington disease, J. Med. Genet., 44, 695, 10.1136/jmg.2007.050930 Yoon, 2003, Huntington disease expansion mutations in humans can occur before meiosis is completed, Proc. Natl. Acad. Sci. U. S. A., 100, 8834, 10.1073/pnas.1331390100 Simard, 2014, Instability of trinucleotidic repeats during chromatin remodeling in spermatids, Hum. Mutat., 35, 1280 Leduc, 2008, DNA damage response during chromatin remodeling in elongating spermatids of mice, Biol. Reprod., 78 Laberge, 2005, On the nature and origin of DNA strand breaks in elongating spermatids, Biol. Reprod., 73, 289, 10.1095/biolreprod.104.036939 Gouraud, 2013, ‘Breaking news’ from spermatids, Basic Clin. Androl., 23, 11, 10.1186/2051-4190-23-11 Ward, 2011, Regulating DNA supercoiling: sperm points the way, Biol. Reprod., 84, 841, 10.1095/biolreprod.111.090951 Stevens, 2013, Trinucleotide repeat expansions catalyzed by human cell-free extracts, Cell Res., 23, 565, 10.1038/cr.2013.12 Aranda, 1998, Detection of non-B-DNA secondary structures by S1 nuclease digestion, J. Chem. Educ., 75 Kogan, 2007, HU-331, a novel cannabinoid-based anticancer topoisomerase II inhibitor, Mol. Cancer Ther., 6, 173, 10.1158/1535-7163.MCT-06-0039 Braun, 2001, Packaging paternal chromosomes with protamine, Nat. Genet., 28, 10, 10.1038/ng0501-10 Balhorn, 2007, The protamine family of sperm nuclear proteins, Genome Biol., 8, 227, 10.1186/gb-2007-8-9-227 Zhao, 2010, Non-B DNA structure-induced genetic instability and evolution, Cell. Mol. Life Sci., 67, 43, 10.1007/s00018-009-0131-2 Bacolla, 2004, Non-B DNA conformations, genomic rearrangements, and human disease, J. Biol. Chem., 279, 47411, 10.1074/jbc.R400028200 Frédéric Leduc, Geneviève Acteau, Marie-Chantal Grégoire, Olivier Simard, Jessica Leroux, Audrey Carrier- Leclerc, Mélina Arguin, Guylain Boissonneault (2011). Post-Meiotic DNA Damage and Response in Male Germ Cells, DNA Repair, In: Dr. Inna Kruman (Ed.), ISBN: 978-953-307-697-3, InTech, Available from: http://www.intechopen.com/books/dna-repair/post-meiotic-dna-damage-and-response-in-male-germ-cells. Garcia-cordier, 2004, MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice, Society, 24, 629 Leduc, 2007, Post-meiotic DNA damage and response in male germ cells, Intech Open