Journal Article

Caveolin-3 in Muscular Dystrophy

Elizabeth M. McNally, Eloisa de Sá Moreira, David J. Duggan, Carsten G. Bönnemann, Michael P. Lisanti, Hart G.W. Lidov, Mariz Vainzof, M. Rita Passos-Bueno, Eric P. Hoffman, Mayana Zatz and Louis M. Kunkel

in Human Molecular Genetics

Volume 7, issue 5, pages 871-877
Published in print May 1998 | ISSN: 0964-6906
Published online May 1998 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/7.5.871
Caveolin-3 in Muscular Dystrophy

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The dystrophin-glycoprotein complex (DGC) serves as a link between cytoplasmic actin, the membrane and the extracellular matrix of striated muscle. Genetic defects in genes encoding a subset of DGC proteins result in muscular dystrophy and a secondary decrease in other DGC proteins. Caveolae are dynamic structures that have been implicated in a number of functions including endocytosis, potocytosis and signal transduction. Caveolin (VIP-21) is thought to play a structural role in the formation of non-clathrin-coated vesicles in a number of different cell types. Caveolin-3, or M-caveolin, was identified as a muscle-specific form of the caveolin family. We show that caveolin-3 co-purifies with dystrophin, and that a fraction of caveolin-3 is a dystrophin-associated protein. We isolated the gene for human caveolin-3 and mapped it to chromosome 3p25. We determined the genomic organization of human caveolin-3 and devised a screening strategy to look for mutations in caveolin-3 in patients with muscular dystrophy. Of 82 patients screened, two nucleotide changes were found that resulted in amino acid substitutions (G55S and C71W); these changes were not seen in a control population. The amino acid changes map to a functionally important domain in caveolin-3, suggesting that these are not benign polymorphisms and instead are disease-causing mutations.

Journal Article.  4269 words.  Illustrated.

Subjects: Genetics and Genomics

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