title: Detection of the nonsense mutation of OPA3 gene in Holstein Friesian cattle with dilated cardiomyopathy in Japan.
abstract: Bovine dilated cardiomyopathy (DCM) is an autosomal recessive genetic disorder causing congestive heart failure and subsequent death. Recently, a nonsense mutation c.343C>T in the bovine optic atrophy 3 (OPA3) gene had been reported to cause the DCM in Holstein cattle in Switzerland. However, the mutation has not been confirmed in bovine DCM outside Switzerland. Nine Holstein Friesian cows that were macroscopically and histologically diagnosed with or suspected of DCM and 12 control cows kept in Japan were tested for the mutation. The mutation surrounding OPA3 DNA fragment was amplified by PCR and subjected to direct sequences. The homogeneous c.343C>T mutation was proved to occur in all the affected cows and not in the control cows. The present study is the first report of the mutation in the DCM affected cows outside Switzerland.
authors.affiliation: Department of Basic Veterinary Medicine, Obihiro University of Agriculture and Veterinary Medicine, Obihiro 080-8555, Japan.
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Horiuchi
authors.forename: Daishiro
authors.initials: D
authors.lastname: Kumagai
authors.forename: Kotaro
authors.initials: K
authors.lastname: Matsumoto
authors.forename: Hisashi
authors.initials: H
authors.lastname: Inokuma
authors.forename: Hidefumi
authors.initials: H
authors.lastname: Furuoka
authors.forename: Yoshiyasu
authors.initials: Y
authors.lastname: Kobayashi
mesh_terms: D000818:Animals; D002311:Cardiomyopathy, Dilated / Q000453:epidemiology / Q000235:genetics / Q000662:veterinary*; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics*; D018389:Codon, Nonsense; D004247:DNA / Q000235:genetics; D005260:Female; D007564:Japan / Q000453:epidemiology; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000235:genetics / Q000662:veterinary
chemical_list: D018389:Codon, Nonsense; D024101:Mitochondrial Proteins; D004247:DNA