TY - JOUR
T1 - Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein
AU - Nigro, Vincenzo
AU - Piluso, Giulio
AU - Belsito, Angela
AU - Politano, Luisa
AU - Puca, Annibale Alessandro
AU - Papparella, Serenella
AU - Rossi, Elena
AU - Viglietto, Giuseppe
AU - Esposito, Maria Grazia
AU - Abbondanza, Ciro
AU - Medici, Nicola
AU - Molinari, Anna Maria
AU - Nigro, Giovanni
AU - Puca, Giovanni Alfredo
PY - 1996/8
Y1 - 1996/8
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=10144247267&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=10144247267&partnerID=8YFLogxK
M3 - Article
C2 - 8842738
AN - SCOPUS:10144247267
VL - 5
SP - 1179
EP - 1186
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 8
ER -