gb-spotlight-20010806-03 GBJ Research news <p>Myotonic expansion</p> Weitzman B Jonathan jonathanweitzman@hotmail.com Genome Biology 1465-6906 2001 2 spotlight-20010806-03 10.1186/gb-spotlight-20010806-03 06 08 2001 2001 BioMed Central Ltd

A huge expansion of intronic CCTG repeats causes Myotonic Dystrophy Type 2.

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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.

http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=160900 Dystrophia Myotonica 1 Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene 1546325 An unstable triplet repeat in a gene related to myotonic muscular dystrophy. 1546326 http://www.sciencemag.org Science http://www.umn.edu/ University of Minnesota http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=602668 Dystrophia Myotonica 2 Identification of a zinc finger protein that binds to the sterol regulatory element. 2562787