The involvement of non-B DNA structures in gross chromosomal rearrangements

DNA Repair (Amst). 2006 Sep 8;5(9-10):1161-70. doi: 10.1016/j.dnarep.2006.05.032. Epub 2006 Jun 27.


Non-B DNA conformations adopted by certain types of DNA sequences promote genetic instabilities, especially gross rearrangements including translocations. We conclude the following: (a) slipped (hairpin) structures, cruciforms, triplexes, tetraplexes and i-motifs, and left-handed Z-DNA are formed in chromosomes and elicit profound genetic consequences via recombination-repair, (b) repeating sequences, probably in their non-B conformations, cause gross genomic rearrangements (translocations, deletions, insertions, inversions, and duplications), and (c) these rearrangements are the genetic basis for numerous human diseases including polycystic kidney disease, adrenoleukodystrophy, follicular lymphomas, and spermatogenic failure.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Base Sequence
  • Chromosome Aberrations*
  • Chromosome Deletion
  • DNA / chemistry*
  • Genetic Diseases, Inborn / genetics*
  • Genomic Instability
  • Humans
  • Models, Genetic
  • Molecular Conformation*
  • Molecular Sequence Data
  • Myotonic Dystrophy / genetics
  • Syndrome
  • Translocation, Genetic


  • DNA