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. Author manuscript; available in PMC: 2013 Mar 1.
Published in final edited form as: Ann Hum Genet. 2011 Dec 21;76(2):178–191. doi: 10.1111/j.1469-1809.2011.00694.x

Table 4.

Gene associated with Trinucleotide repeat instability Adapted from (Kovtun and McMurray, 2008)

Gene Effect on repeat expansion System Reference
ATR (Mec1) increase in repeat expansions* FXS mouse (Entezam and Usdin, 2009)
ATM increase in repeat expansions FXS mouse (Entezam and Usdin, 2009)
FEN1 (Rad27) increase in repeat expansions* Yeast/HD mouse (Spiro et al., 1999)
MSH2 decrease in repeat expansions* DM/HD mouse (Savouret et al., 2003, Pearson et al., 1997, Tome et al., 2009)
MSH3 decrease in repeat expansions* DM/HD mouse (Manley et al., 1999, Foiry et al., 2006, Owen et al., 2009)
MSH6 decrease in repeat expansions DM/HD mouse (Savouret et al., 2003)
OGG1 decrease in repeat expansions HD mouse (Kovtun et al., 2007)
Pms2 decrease in repeat expansions DM mouse (Gomes-Pereira et al., 2004)

ATR (Ataxia telangiectasia and Rad3 related Kinase); Fen-1 (Flap Endonuclease); Msh2, Msh3 and Msh6 (MutS homologue 2; MutS homologue 3; MutS homologue 6; OGG1, (7,8-dihydro-8-oxo-guanine-DNA glycosylase); Pms2, (*) absence of gene has been shown to effect intergenerational expansions