Journal Article

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 and Giovanni Alfredo Puca

in Human Molecular Genetics

Volume 5, issue 8, pages 1179-1186
Published in print August 1996 | ISSN: 0964-6906
Published online August 1996 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/5.8.1179
Identification of a Novel Sarcoglycan Gene at 5q33 Encoding a Sarcolemmal 35 kDa Glycoprotein

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Mutations in any of the genes encoding the α, β 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.

Journal Article.  5537 words.  Illustrated.

Subjects: Genetics and Genomics

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