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Human Molecular Genetics Advance Access originally published online on November 30, 2005
Human Molecular Genetics 2006 15(1):129-142; doi:10.1093/hmg/ddi434
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© The Author 2005. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3

Delia J. Hernández-Deviez1, Sally Martin1, Steven H. Laval2, Harriet P. Lo3, Sandra T. Cooper3, Kathryn N. North3, Kate Bushby2 and Robert G. Parton1,*

1Institute for Molecular Bioscience, Centre for Microscopy and Microanalysis and School of Biomedical Sciences, University of Queensland, Brisbane, QLD 4072, Australia, 2LGMD Group, Institute of Human Genetics, International Centre for Life, Newcastle NE1 3BZ, UK and 3Institute for Neuromuscular Research, Faculty of Medicine, University of Sydney, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, 2145 Sydney, Australia

* To whom correspondence should be addressed. Tel: +61 733656468/33462032; Fax: +61 733462039; Email: r.parton{at}imb.uq.edu.au

Received September 26, 2005; Accepted November 20, 2005

Mutations in the dysferlin (DYSF) and caveolin-3 (CAV3) genes are associated with muscle disease. Dysferlin is mislocalized, by an unknown mechanism, in muscle from patients with mutations in caveolin-3 (Cav-3). To examine the link between Cav-3 mutations and dysferlin mistargeting, we studied their localization at high resolution in muscle fibers, in a model muscle cell line, and upon heterologous expression of dysferlin in muscle cell lines and in wild-type or caveolin-null fibroblasts. Dysferlin shows only partial overlap with Cav-3 on the surface of isolated muscle fibers but co-localizes with Cav-3 in developing transverse (T)-tubules in muscle cell lines. Heterologously expressed dystrophy-associated mutant Cav3R26Q accumulates in the Golgi complex of muscle cell lines or fibroblasts. Cav3R26Q and other Golgi-associated mutants of both Cav-3 (Cav3P104L) and Cav-1 (Cav1P132L) caused a dramatic redistribution of dysferlin to the Golgi complex. Heterologously expressed epitope-tagged dysferlin associates with the plasma membrane in primary fibroblasts and muscle cells. Transport to the cell surface is impaired in the absence of Cav-1 or Cav-3 showing that caveolins are essential for dysferlin association with the PM. These results suggest a functional role for caveolins in a novel post-Golgi trafficking pathway followed by dysferlin.


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