an unusual splice defect in the mitofusin 2 gene (mfn2) is associated with degenerative axonopathy in tyrolean grey cattlemitofusin 2基因的一个不寻常的接头缺陷(进行mfn2)与退行性axonopathy提洛尔人的灰色牛.pdfVIP

An Unusual Splice Defect in the Mitofusin 2 Gene (MFN2) Is Associated with Degenerative Axonopathy in Tyrolean Grey Cattle ¨ ¨ 1 2 3 3 4 Cord Drogemuller , Ursula Reichart , Torsten Seuberlich , Anna Oevermann , Martin Baumgartner , ¨ 5 5 6 6 ¨ 2 Kathrin Kuhni Boghenbor , Michael H. Stoffel , Claudia Syring , Mireille Meylan , Simone Muller , ¨ 2 7 ¨ 7 . 1 . Mathias Muller , Birgit Gredler , Johann Solkner * , Tosso Leeb * 1 Institute of Genetics, University of Bern, Bern, Switzerland, 2 Institute of Animal Breeding and Genetics, University of Veterinary Medicine Vienna, Vienna, Austria, 3 Neurocenter, Division of Experimental Clinical Research, University of Bern, Bern, Switzerland, 4 Division of Molecular Pathobiology, University of Bern, Bern, Switzerland, 5 Division of Veterinary Anatomy, University of Bern, Bern, Switzerland, 6 Clinic for Ruminants, University of Bern, Bern, Switzerland, 7 Division of Livestock Sciences, University of Natural Resources and Applied Life Sciences, Vienna, Austria Abstract Tyrolean Grey cattle represent a local breed with a population size of ,5000 registered cows. In 2003, a previously unknown neurological disorder was recognized in Tyrolean Grey cattle. The clinical signs of the disorder are similar to those of bovine progressive degenerative myeloencephalopathy (weaver syndrome) in Brown Swiss cattle but occur much earlier in life. The neuropathological investigation of an affected calf showed axonal degeneration in t