Features of trinucleotide repeat instability in vivo

Irina V. Kovtun, Cynthia T. McMurray

Research output: Contribution to journalReview articlepeer-review

103 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)198-213
Number of pages16
JournalCell Research
Issue number1
StatePublished - Jan 2008


  • Base excision repair
  • Break repair
  • Huntington's disease
  • Microsatellite instability
  • Myotonic dystrophy
  • OGG1
  • Trinucleotide repeats

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology


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