Triplet repeat DNA structures and human genetic disease: Dynamic mutations from dynamic DNA

Richard R. Sinden, Vladimir N. Potaman, Elena A. Oussatcheva, Christopher E. Pearson, Yuri L. Lyubchenko, Luda S. Shlyakhtenko

Research output: Contribution to journalArticlepeer-review

119 Scopus citations


Fourteen genetic neurodegenerative diseases and three fragile sites have been associated with the expansion of (CTG)n•(CAG)n•(CGG)n• (CCG)n, or (GAA)n·(TTC)n repeat tracts. Different models have been proposed for the expansion of triplet repeats, most of which presume the formation of alternative DNA structures in repeat tracts. One of the most likely structures, slipped strand DNA, may stably and reproducibly form within triplet repeat sequences. The propensity to form slipped strand DNA is proportional to the length and homogeneity of the repeat tract. The remarkable stability of slipped strand DNA may, in part, be due to loop-loop interactions facilitated by the sequence complementarity of the loops and the dynamic structure of three-way junctions formed at the loop-outs.

Original languageEnglish (US)
Pages (from-to)53-65
Number of pages13
JournalJournal of Biosciences
Issue number1 SUPPL. 1
StatePublished - 2002
Externally publishedYes


  • DNA hairpins
  • DNA structure
  • Slipped strand DNA
  • Triplet repeat disease
  • Triplet repeats

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)


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