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dc.contributor.authorCrosbie, R H
dc.contributor.authorHeighway, Jim
dc.contributor.authorVenzke, D P
dc.contributor.authorLee, J C
dc.contributor.authorCampbell, K P
dc.date.accessioned2010-03-30T10:38:37Z
dc.date.available2010-03-30T10:38:37Z
dc.date.issued1997-12-12
dc.identifier.citationSarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex. 1997, 272 (50):31221-4 J. Biol. Chem.en
dc.identifier.issn0021-9258
dc.identifier.pmid9395445
dc.identifier.doi10.1074/jbc.272.50.31221
dc.identifier.urihttp://hdl.handle.net/10541/95235
dc.description.abstractThe dystrophin-glycoprotein complex is a multisubunit protein complex that spans the sarcolemma and forms a link between the subsarcolemmal cytoskeleton and the extracellular matrix. Primary mutations in the genes encoding the proteins of this complex are associated with several forms of muscular dystrophy. Here we report the cloning and characterization of sarcospan, a unique 25-kDa member of this complex. Topology algorithms predict that sarcospan contains four transmembrane spanning helices with both N- and C-terminal domains located intracellularly. Phylogenetic analysis reveals that sarcospan's arrangement in the membrane as well as its primary sequence are similar to that of the tetraspan superfamily of proteins. Sarcospan co-localizes and co-purifies with the dystrophin-glycoprotein complex, demonstrating that it is an integral component of the complex. We also show that sarcospan expression is dramatically reduced in muscle from patients with Duchenne muscular dystrophy. This suggests that localization of sarcospan to the membrane is dependent on proper dystrophin expression. The gene encoding sarcospan maps to human chromosome 12p11.2, which falls within the genetic locus for congenital fibrosis of the extraocular muscle, an autosomal dominant muscular dystrophy.
dc.language.isoenen
dc.subjectCancer Proteinsen
dc.subject.meshAdult
dc.subject.meshAmino Acid Sequence
dc.subject.meshAnimals
dc.subject.meshBinding Sites
dc.subject.meshCarrier Proteins
dc.subject.meshDystrophin
dc.subject.meshHumans
dc.subject.meshMacromolecular Substances
dc.subject.meshMembrane Glycoproteins
dc.subject.meshMembrane Proteins
dc.subject.meshMolecular Sequence Data
dc.subject.meshMolecular Weight
dc.subject.meshMuscle, Skeletal
dc.subject.meshNeoplasm Proteins
dc.subject.meshProtein Structure, Secondary
dc.subject.meshRabbits
dc.subject.meshSarcolemma
dc.titleSarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex.en
dc.typeArticleen
dc.contributor.departmentHoward Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA.en
dc.identifier.journalThe Journal of Biological Chemistryen
html.description.abstractThe dystrophin-glycoprotein complex is a multisubunit protein complex that spans the sarcolemma and forms a link between the subsarcolemmal cytoskeleton and the extracellular matrix. Primary mutations in the genes encoding the proteins of this complex are associated with several forms of muscular dystrophy. Here we report the cloning and characterization of sarcospan, a unique 25-kDa member of this complex. Topology algorithms predict that sarcospan contains four transmembrane spanning helices with both N- and C-terminal domains located intracellularly. Phylogenetic analysis reveals that sarcospan's arrangement in the membrane as well as its primary sequence are similar to that of the tetraspan superfamily of proteins. Sarcospan co-localizes and co-purifies with the dystrophin-glycoprotein complex, demonstrating that it is an integral component of the complex. We also show that sarcospan expression is dramatically reduced in muscle from patients with Duchenne muscular dystrophy. This suggests that localization of sarcospan to the membrane is dependent on proper dystrophin expression. The gene encoding sarcospan maps to human chromosome 12p11.2, which falls within the genetic locus for congenital fibrosis of the extraocular muscle, an autosomal dominant muscular dystrophy.


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