title: A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy.
abstract: Familial hypertrophic cardiomyopathy (HCM) is a primary myocardial disease with a prevalence of 1 in 500 in human beings. Causative mutations have been identified in several sarcomeric genes, including the cardiac myosin binding protein C (MYBPC3) gene. Heritable HCM also exists in a large-animal model, the cat, and we have previously reported a mutation in the MYBPC3 gene in the Maine coon breed. We now report a separate mutation in the MYBPC3 gene in ragdoll cats with HCM. The mutation changes a conserved arginine to tryptophan and appears to alter the protein structure. The ragdoll is not related to the Maine coon and the mutation identified is in a domain different from that of the previously identified feline mutation. The identification of two separate mutations within this gene in unrelated breeds suggests that these mutations occurred independently rather than being passed on from a common founder.
authors.affiliation: Department of Veterinary Clinical Sciences, Washington State University College of Veterinary Medicine, Pullman, WA 99164, USA. Meurs@vetmed.wsu.edu
authors.forename: Kathryn M
authors.initials: KM
authors.lastname: Meurs
authors.forename: Michelle M
authors.initials: MM
authors.lastname: Norgard
authors.forename: Martina M
authors.initials: MM
authors.lastname: Ederer
authors.forename: Kristina P
authors.initials: KP
authors.lastname: Hendrix
authors.forename: Mark D
authors.initials: MD
authors.lastname: Kittleson
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002415:Cats; D004274:DNA, Recombinant; D004195:Disease Models, Animal; D005091:Exons; D008969:Molecular Sequence Data; D017354:Point Mutation; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D004274:DNA, Recombinant; D000099163:Myosin Binding Protein C