title: The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein.
abstract: The ky mouse mutant exhibits a primary degenerative myopathy preceding chronic thoraco-lumbar kyphoscoliosis. The histopathology of the ky mutant suggests that Ky protein activity is crucial for normal muscle growth and function as well as the maturation and stabilization of the neuromuscular junction. Muscle hypertrophy in response to increasing demand is deficient in the ky mutant, whereas adaptive fibre type shifts take place. The ky locus has previously been localized to a small region of mouse chromosome 9 and we have now identified the gene and the mutation underlying the kyphoscoliotic mouse. The ky transcript encodes a novel protein that is detected only in skeletal muscle and heart. The identification of the ky gene will allow detailed analysis of the impact of primary myopathy on idiopathic scoliosis in mice and man.
authors.affiliation: MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, Oxon OX11 ORD, UK. g.blanco@har.mrc.ac.uk
authors.forename: G
authors.initials: G
authors.lastname: Blanco
authors.forename: G R
authors.initials: GR
authors.lastname: Coulton
authors.forename: A
authors.initials: A
authors.lastname: Biggin
authors.forename: C
authors.initials: C
authors.lastname: Grainge
authors.forename: J
authors.initials: J
authors.lastname: Moss
authors.forename: M
authors.initials: M
authors.lastname: Barrett
authors.forename: A
authors.initials: A
authors.lastname: Berquin
authors.forename: G
authors.initials: G
authors.lastname: Maréchal
authors.forename: M
authors.initials: M
authors.lastname: Skynner
authors.forename: P
authors.initials: P
authors.lastname: van Mier
authors.forename: A
authors.initials: A
authors.lastname: Nikitopoulou
authors.forename: M
authors.initials: M
authors.lastname: Kraus
authors.forename: C P
authors.initials: CP
authors.lastname: Ponting
authors.forename: R M
authors.initials: RM
authors.lastname: Mason
authors.forename: S D
authors.initials: SD
authors.lastname: Brown
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D015152:Blotting, Northern; D003001:Cloning, Molecular; D004195:Disease Models, Animal; D006720:Homozygote; D006984:Hypertrophy; D007150:Immunohistochemistry; D051379:Mice; D018613:Microscopy, Confocal; D018715:Microscopy, Video; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009132:Muscles / Q000378:metabolism*; D009135:Muscular Diseases / Q000235:genetics*; D009154:Mutation; D018995:Myosin Heavy Chains / Q000737:chemistry / Q000235:genetics; D009469:Neuromuscular Junction / Q000002:abnormalities; D020033:Protein Isoforms; D011859:Radiography; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012600:Scoliosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000378:metabolism; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution; D011503:Transglutaminases / Q000737:chemistry
chemical_list: D020033:Protein Isoforms; D011503:Transglutaminases; D018995:Myosin Heavy Chains