title: Characterisation of the dysferlin skeletal muscle promoter.
abstract: Deficiency of the skeletal muscle membrane protein dysferlin causes the related and overlapping neuromuscular disorders limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. This paper describes the preliminary characterisation of the human dysferlin promoter. The transcriptional start site of dysferlin has been mapped using 5' RACE PCR, which extended the length of the known 5' UTR to 914 bp. Promoter elements have been mapped by assessing the ability of fragments from this region to activate the expression of a luciferase reporter gene borne on a plasmid transfected into differentiated and undifferentiated C2C12 mouse myoblast cells. Finally, the core promoter region has been screened for mutations in suspected dysferlinopathy patients.
authors.affiliation: Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle-upon-Tyne NE1 3BZ, UK.
authors.forename: R M
authors.initials: RM
authors.lastname: Foxton
authors.forename: S H
authors.initials: SH
authors.lastname: Laval
authors.forename: K M D
authors.initials: KM
authors.lastname: Bushby
mesh_terms: D000818:Animals; D015153:Blotting, Western; D002460:Cell Line; D000073939:Dysferlin; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism*; D009135:Muscular Diseases / Q000235:genetics; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins