title: Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy.
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.
authors.affiliation: Howard Hughes Medical Institute and Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA. devin-campbell@uiowa.edu
authors.forename: D
authors.initials: D
authors.lastname: Jung
authors.forename: F
authors.initials: F
authors.lastname: Duclos
authors.forename: B
authors.initials: B
authors.lastname: Apostol
authors.forename: V
authors.initials: V
authors.lastname: Straub
authors.forename: J C
authors.initials: JC
authors.lastname: Lee
authors.forename: V
authors.initials: V
authors.lastname: Allamand
authors.forename: D P
authors.initials: DP
authors.lastname: Venzke
authors.forename: Y
authors.initials: Y
authors.lastname: Sunada
authors.forename: C R
authors.initials: CR
authors.lastname: Moomaw
authors.forename: C J
authors.initials: CJ
authors.lastname: Leveille
authors.forename: C A
authors.initials: CA
authors.lastname: Slaughter
authors.forename: T O
authors.initials: TO
authors.lastname: Crawford
authors.forename: J D
authors.initials: JD
authors.lastname: McPherson
authors.forename: K P
authors.initials: KP
authors.lastname: Campbell
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D003598:Cytoskeletal Proteins / Q000737:chemistry* / Q000235:genetics; D018076:DNA, Complementary / Q000737:chemistry; D006801:Humans; D008562:Membrane Glycoproteins / Q000737:chemistry* / Q000235:genetics; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism*; D012333:RNA, Messenger / Q000378:metabolism; D049031:Sarcoglycans; D014018:Tissue Distribution
chemical_list: D003598:Cytoskeletal Proteins; D018076:DNA, Complementary; D008562:Membrane Glycoproteins; D012333:RNA, Messenger; D049031:Sarcoglycans