title: The cysteine-rich and C-terminal domains of dystrophin are not required for normal costameric localization in the mouse.
abstract: Dystrophin has a modular structure and is believed to be critical for muscle cell cytoarchitecture by linking the cytoskeleton to the extracellular matrix. The N-terminus binds to actin and two domains at the C-terminus, the cysteine-rich and C-terminal domains, are associated with the sarcolemma indirectly via the dystroglycan complex. We have generated a mutation in mouse embryonic stem (ES) cells which serves to delete the cysteine-rich and C-terminal domains to address directly their role. We show that these two domains are not necessary for normal costameric organization at the sarcolemma in myotubes derived from the mutant cell line. Furthermore sarcolemmal localization is also apparent in mouse chimaeric muscle in vivo.
authors.affiliation: Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, London, UK.
authors.forename: M K
authors.initials: MK
authors.lastname: Maconochie
authors.forename: A H
authors.initials: AH
authors.lastname: Simpkins
authors.forename: E
authors.initials: E
authors.lastname: Damien
authors.forename: G
authors.initials: G
authors.lastname: Coulton
authors.forename: A J
authors.initials: AJ
authors.lastname: Greenfield
authors.forename: S D
authors.initials: SD
authors.lastname: Brown
mesh_terms: D000483:Alleles; D000818:Animals; D002454:Cell Differentiation; D002678:Chimera; D003545:Cysteine; D016189:Dystrophin / Q000032:analysis* / Q000737:chemistry* / Q000235:genetics; D005091:Exons / Q000235:genetics; D017930:Genes, Reporter / Q000235:genetics; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D018485:Muscle Fibers, Skeletal / Q000737:chemistry; D009154:Mutation; D011993:Recombinant Fusion Proteins / Q000032:analysis / Q000096:biosynthesis; D012508:Sarcolemma / Q000737:chemistry*; D017384:Sequence Deletion; D013234:Stem Cells / Q000166:cytology; D001616:beta-Galactosidase / Q000235:genetics
chemical_list: D016189:Dystrophin; D011993:Recombinant Fusion Proteins; D001616:beta-Galactosidase; D003545:Cysteine