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Genome Biology volume 2, Article number: spotlight-20010806-03 (2001)
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.
Dystrophia Myotonica 1, [http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=160900]
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene
An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
University of Minnesota , [http://www.umn.edu/]
Dystrophia Myotonica 2, [http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=602668]
Identification of a zinc finger protein that binds to the sterol regulatory element.
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Weitzman, J.B. Myotonic expansion. Genome Biol 2, spotlight-20010806-03 (2001) doi:10.1186/gb-spotlight-20010806-03
- Untranslated Region
- Zinc Finger
- Chromosome 13q21
- Muscular Dystrophy