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Genome Biology

, 2:spotlight-20010806-03 | Cite as

Myotonic expansion

  • Jonathan B Weitzman
Research news
  • 312 Downloads

Keywords

Zinc Untranslated Region Zinc Finger Chromosome 13q21 Muscular Dystrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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

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    Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the geneGoogle Scholar
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    An unstable triplet repeat in a gene related to myotonic muscular dystrophy.Google Scholar
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    University of Minnesota , [http://www.umn.edu/]
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    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

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