• Media type: E-Article
  • Title: A Z-DNA Sequence Reduces Slipped-Strand Structure Formation in the Myotonic Dystrophy Type 2 (CCTG)•(CAGG) Repeat
  • Contributor: Edwards, Sharon F.; Sirito, Mario; Krahe, Ralf; Sinden, Richard R.; Rich, Alexander
  • Published: National Academy of Sciences, 2009
  • Published in: Proceedings of the National Academy of Sciences of the United States of America, 106 (2009) 9, Seite 3270-3275
  • Language: English
  • ISSN: 0027-8424
  • Origination:
  • Footnote:
  • Description: <p>All DNA repeats known to undergo expansion leading to human neurodegenerative disease can form one, or several, alternative conformations, including hairpin, slipped strand, triplex, quadruplex, or unwound DNA structures. These alternative structures may interfere with the normal cellular processes of transcription, DNA repair, replication initiation, or polymerase elongation and thereby contribute to the genetic instability of these repeat tracts. We show that (CCTG)•(CAGG) repeats, in the first intron of the ZNF9 gene associated with myotonic dystrophy type 2, form slipped-strand DNA structures in a length-dependent fashion upon reduplexing. The threshold for structure formation on reduplexing is between 36 and 42 repeats in length. Alternative DNA structures also form in (CCGT)₄₈•(CAGT)₄₈ and larger repeat tracts in plasmids at physiological superhelical densities. This represents an example of a sequence that forms slipped-strand DNA from the energy of DNA supercoiling. Moreover, Z-DNA forms in a (TG)•(CA) tract within the complex repeat sequence 5' of the $(CCTG)_n .(CAGG)_n $ repeat in the ZNF9 gene. Upon reduplexing, the presence of the flanking sequence containing the Z-DNA-forming tract reduced the extent of slipped-strand DNA formation by 62% for (CCTG)₄₇•(CAGG)₄₇ compared with 58 pure repeats without the flanking sequence. This finding suggests that the Z-DNA-forming sequence in the DM2 gene locus may have a protective effect of reducing the potential for slipped-strand DNA formation in $(CCTG)_n .(CAGG)_n $ repeats.</p>
  • Access State: Open Access