Author(s): D. Jung;F. Duclos;B. Apostol;V. Straub;J. C. Lee;V. Allamand;D. P. Venzke;Y. Sunada;C. R. Moomaw;C. J. Leveille;C. A. Slaughter;T. O. Crawford;J. D. McPherson;K. P. Campbell
Abstract: The sarcoglycan complex is known to be involved in limb-girdle muscular dystrophy (LGMD) and is composed of at least three proteins: alpha-, beta-, and gamma-sarcoglycan. delta-Sarcoglycan has now been identified as a second 35-kDa sarcolemmal transmembrane glycoprotein that shares high homology with gamma-sarcoglycan and is expressed mainly in skeletal and cardiac muscle. Biochemical analysis has demonstrated that gamma- and delta-sarcoglycan are separate entities within the sarcoglycan complex and that all four sarcoglycans exist in the complex on a stoichiometrically equal basis. Immunohistochemical analysis of skeletal muscle biopsies from patients with LGMD2C, LGMD2D, and LGMD2E demonstrated a reduction of the entire sarcoglycan complex in these muscular dystrophies. Furthermore, we have mapped the human delta-sarcoglycan gene to chromosome 5q33-q34 in a region overlapping the recently linked autosomal recessive LGMD2F locus.
Keywords: Amino Acid Sequence Base Sequence Chromosome Mapping Cytoskeletal Proteins/ chemistry/genetics DNA, Complementary/chemistry Humans Membrane Glycoproteins/ chemistry/genetics Models, Molecular Molecular Sequence Data Muscular Dystrophies/genetics/ metabolism RNA, Messenger/metabolism Sarcoglycans Tissue Distribution