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Human Molecular Genetics, 2000, Vol. 9, No. 13 2019-2027
© 2000 Oxford University Press

Molecular and genetic characterization of sarcospan: insights into sarcoglycan–sarcospan interactions

Rachelle H. Crosbie, Leland E. Lim, Steven A. Moore1, Michio Hirano2, Arthur P. Hays3, Simon W. Maybaum4, Huguette Collin5, Sherri A. Dovico, Catherine A. Stolle6, Michel Fardeau5, Fernando M.S. Tomé5 and Kevin P. Campbell+

Howard Hughes Medical Institute, Department of Physiology and Biophysics, Department of Neurology, University of Iowa College of Medicine, 400 Eckstein Medical Research Building, Iowa City, IA 52242, USA and 1Department of Pathology, University of Iowa College of Medicine, Iowa City, IA 52242, USA, 2Department of Neurology, 3Department of Neuropathology and 4Department of Cardiology, Columbia-Presbyterian Medical Center, New York, NY 10032, USA, 5INSERM U523, Institut de Myologie, Hôpital de la Salpêtrière, Paris, France and 6Genetic Diagnostics Laboratory, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA

Autosomal recessive limb girdle muscular dystrophies 2C–2F represent a family of diseases caused by primary mutations in the sarcoglycan genes. We show that sarcospan, a novel tetraspan-like protein, is also lost in patients with either a complete or partial loss of the sarcoglycans. In particular, sarcospan was absent in a {gamma}-sarcoglycanopathy patient with normal levels of {alpha}-, ß- and {delta}-sarcoglycan. Thus, it is likely that assembly of the complete, tetrameric sarcoglycan complex is a prerequisite for membrane targeting and localization of sarcospan. Based on our findings that sarcospan is integrally associated with the sarcoglycans, we screened >50 autosomal recessive muscular dystrophy cases for mutations in sarcospan. Although we identified three intragenic polymorphisms, we did not find any cases of muscular dystrophy associated with primary mutations in the sarcospan gene. Finally, we have identified an important case of limb girdle muscular dystrophy and cardiomyopathy with normal expression of sarcospan. This patient has a primary mutation in the {gamma}-sarcoglycan gene, which causes premature truncation of {gamma}-sarcoglycan without affecting assembly of the mutant {gamma}-sarcoglycan into a complex with {alpha}-, ß- and {delta}-sarcoglycan and sarcospan. This is the first demonstration that membrane expression of a mutant sarcoglycan–sarcospan complex is insufficient in preventing muscular dystrophy and cardiomyopathy and that the C-terminus of {gamma}-sarcoglycan is critical for the functioning of the entire sarcoglycan–sarcospan complex. These findings are important as they contribute to a greater understanding of the structural determinants required for proper sarcoglycan–sarcospan expression and function.

+ To whom correspondence should be addressed. Tel: +1 319 335 7867; Fax: +1 319 335 6957; Email: kevin-campbell@uiowa.edu


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