Detection of the nonsense mutation of OPA3 gene in Holstein Friesian cattle
with dilated cardiomyopathy in Japan |
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Authors: | Noriyuki HORIUCHI Daishiro KUMAGAI Kotaro MATSUMOTO Hisashi INOKUMA Hidefumi FURUOKA Yoshiyasu KOBAYASHI |
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Institution: | 1)Department of Basic Veterinary Medicine, Obihiro University of Agriculture and Veterinary Medicine, Obihiro 080–8555, Japan;2)Department of Clinical Veterinary Medicine, Obihiro University of Agriculture and Veterinary Medicine, Obihiro 080–8555, Japan |
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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. |
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Keywords: | cattle dilated cardiomyopathy nonsense mutation OPA3 gene |
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