REVIEW

Cell Research (2008): 198-213
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Features of trinucleotide repeat instability in vivo

Irina V Kovtun¹ and Cynthia T McMurray¹

Correspondence: Irina V Kovtun Tel: +507-284-8911; Fax: +507-284-9111 E-mail: kovtun.irina@mayo.edu

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Unstable repeats are associated with various types of cancer and have been implicated in more than 40 neurodegenerative disorders. Trinucleotide repeats are located in non-coding and coding regions of the genome. Studies of bacteria, yeast, mice and man have helped to unravel some features of the mechanism of trinucleotide expansion. Looped DNA structures comprising trinucleotide repeats are processed during replication and/or repair to generate deletions or expansions. Most in vivo data are consistent with a model in which expansion and deletion occur by different mechanisms. In mammals, microsatellite instability is complex and appears to be influenced by genetic, epigenetic and developmental factors.

Cell Research (2008) 18:198-213. doi: 10.1038/cr.2008.5; published online 1 January 2008

Keywords: microsatellite instability, trinucleotide repeats, base excision repair, break repair, OGG1, Huntington's disease, myotonic dystrophy