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Human Molecular Genetics, Vol 5, 1179-1186, Copyright © 1996 by Oxford University Press

ARTICLES

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein

V Nigro, G Piluso, A Belsito, L Politano, AA Puca, S Papparella, E Rossi, G Viglietto, MG Esposito, C Abbondanza, N Medici, AM Molinari, G Nigro and GA Puca
Istituto di Patologia Generale ed Oncologia, Facolta di Medicina, Seconda Universita degli Studi di Napoli, Italy.

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.
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