Genome Biology

, 2:spotlight-20010806-03 | Cite as

Myotonic expansion

  • Jonathan B Weitzman
Research news
  • 291 Downloads

Keywords

Zinc Untranslated Region Zinc Finger Chromosome 13q21 Muscular Dystrophy 

Myotonic dystrophy (DM) is the most common form of adult muscular dystrophy. DM Type 1 caused by expansion of a CTG repeat in the 3' untranslated region of the dystrophia myotonica-protein kinase (DMPK) gene. In the August 3 Science, Christina Liquori and colleagues from the University of Minnesota report that DM2 is also caused by microsatellite expansion in non-coding sequences (Science 2001, 293:864-867). While characterizing the DM2 locus on chromosome 13q21, Liquori et al. discovered an expansion ranging from 10 to 48 kilobases in DM2 patients. The expansions consisted of 75-11,000 CCTG repeats. The expansion lies within intron 1 of the zinc finger protein 9 (ZNF9) gene. It will be important to understand how both these microsatellite repeat expansions contribute to the pathology of DM diseases.

References

  1. 1.
  2. 2.
    Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the geneGoogle Scholar
  3. 3.
    An unstable triplet repeat in a gene related to myotonic muscular dystrophy.Google Scholar
  4. 4.
  5. 5.
    University of Minnesota , [http://www.umn.edu/]
  6. 6.
  7. 7.
    Identification of a zinc finger protein that binds to the sterol regulatory element.Google Scholar

Copyright information

© BioMed Central Ltd 2001

Authors and Affiliations

  • Jonathan B Weitzman

There are no affiliations available

Personalised recommendations