title: Detection of the dystroglycanopathy protein, fukutin, using a new panel of site-specific monoclonal antibodies.
abstract: Mutations in the gene encoding fukutin protein cause Fukuyama muscular dystrophy, a severe congenital disorder that occurs mainly in Japan. A major consequence of the mutation is reduced glycosylation of alpha-dystroglycan, which is also a feature of other forms of congenital and limb-girdle muscular dystrophy. Immunodetection of endogenous fukutin in cells and tissues has been difficult and this has hampered progress in understanding fukutin function and disease pathogenesis. Using a new panel of monoclonal antibodies which bind to different defined sites on the fukutin molecule, we now show that fukutin has the predicted size for a protein without extensive glycosylation and is present at the Golgi apparatus at very low levels. These antibodies should enable more rapid future progress in understanding the molecular function of fukutin.
authors: Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic Hospital, Oswestry, SY10 7AG, UK.
authors: Tracy A
authors: TA
authors: Lynch
authors: Le Thanh
authors: le T
authors: Lam
authors: Nguyen thi
authors: Nt
authors: Man
authors: Kazuhiro
authors: K
authors: Kobayashi
authors: Tatsushi
authors: T
authors: Toda
authors: Glenn E
authors: GE
authors: Morris
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D000911:Antibodies, Monoclonal; D018604:Epitope Mapping; D006031:Glycosylation; D006056:Golgi Apparatus / Q000378:metabolism; D006367:HeLa Cells; D006801:Humans; D006825:Hybridomas; D016056:Immunodominant Epitopes / Q000032:analysis / Q000235:genetics / Q000276:immunology; D008565:Membrane Proteins / Q000032:analysis* / Q000235:genetics / Q000276:immunology; D051379:Mice; D008807:Mice, Inbred BALB C; D008969:Molecular Sequence Data; D019151:Peptide Library; D058494:Walker-Warburg Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism
chemical_list: D000911:Antibodies, Monoclonal; C113587:FKTN protein, human; D016056:Immunodominant Epitopes; D008565:Membrane Proteins; D019151:Peptide Library