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

Vincenzo Nigro, Giulio Piluso, Angela Belsito, Luisa Politano, Annibale Alessandro Puca, Serenella Papparella, Elena Rossi, Giuseppe Viglietto, Maria Grazia Esposito, Ciro Abbondanza, Nicola Medici, Anna Maria Molinari, Giovanni Nigro, Giovanni Alfredo Puca

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations in any of the genes encoding the cc, P or γ-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 δ-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 δ-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.

Original languageEnglish
Pages (from-to)1179-1186
Number of pages8
JournalHuman Molecular Genetics
Volume5
Issue number8
Publication statusPublished - Aug 1996

ASJC Scopus subject areas

  • Genetics

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