title: Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.
abstract: Mutations in any of the genes encoding the alpha, beta or gamma-sarcoglycan components of dystrophin-associated glycoproteins result in both sporadic and familial cases of either limb-girdle muscular dystrophy or severe childhood autosomal recessive muscular dystrophy. The collective name 'sarcoglycanopathies' has been proposed for these forms. We report the identification of a fourth member of the human sarcoglycan family. We named this novel cDNA delta-sarcoglycan. Its mRNA expression is abundant in striated and smooth muscles, with a main 8 kb transcript, encoding a predicted basic transmembrane glycoprotein of 290 amino acids. Antibodies specifically raised against this protein recognized a single band at 35 kDa on western blots of human and mouse muscle. Immunohistochemical staining revealed a unique sarcolemmal localization. FISH, radiation hybrid and YAC mapping concordantly linked the delta-sarcoglycan gene to 5q33, close to D5S487 and D5S1439. The gene spans at least 100 kb and is composed of eight exons. The identification of a novel sarcoglycan component modifies the current model of the dystrophin-glycoprotein complex.
authors.affiliation: Istituto di Patologia Generale ed Oncologia, Facoltà di Medicina, Seconda Università degli Studi di Napoli, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Nigro
authors.forename: G
authors.initials: G
authors.lastname: Piluso
authors.forename: A
authors.initials: A
authors.lastname: Belsito
authors.forename: L
authors.initials: L
authors.lastname: Politano
authors.forename: A A
authors.initials: AA
authors.lastname: Puca
authors.forename: S
authors.initials: S
authors.lastname: Papparella
authors.forename: E
authors.initials: E
authors.lastname: Rossi
authors.forename: G
authors.initials: G
authors.lastname: Viglietto
authors.forename: M G
authors.initials: MG
authors.lastname: Esposito
authors.forename: C
authors.initials: C
authors.lastname: Abbondanza
authors.forename: N
authors.initials: N
authors.lastname: Medici
authors.forename: A M
authors.initials: AM
authors.lastname: Molinari
authors.forename: G
authors.initials: G
authors.lastname: Nigro
authors.forename: G A
authors.initials: GA
authors.lastname: Puca
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002648:Child; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000737:chemistry / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics / Q000302:isolation & purification; D015870:Gene Expression; D006801:Humans; D007150:Immunohistochemistry; D008562:Membrane Glycoproteins / Q000737:chemistry / Q000235:genetics*; D051379:Mice; D008954:Models, Biological; D008969:Molecular Sequence Data; D008970:Molecular Weight; D009132:Muscles / Q000378:metabolism; D009154:Mutation; D011817:Rabbits; D049031:Sarcoglycans; D012508:Sarcolemma / Q000737:chemistry; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution
chemical_list: D003598:Cytoskeletal Proteins; D018076:DNA, Complementary; D008562:Membrane Glycoproteins; D049031:Sarcoglycans