a missense mutation in the serpinh1 gene in dachshunds with osteogenesis imperfectaserpinh1的错义突变基因与成骨不全症腊肠犬.pdfVIP

A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta ¨ ¨ 1 1 1 1 2 3 Cord Drogemuller , Doreen Becker , Adrian Brunner , Bianca Haase , Patrick Kircher , Frank Seeliger , 4 5 6,7 1 Michael Fehr , Ulrich Baumann , Kerstin Lindblad-Toh , Tosso Leeb * 1 Institute of Genetics, Vetsuisse Faculty, University of Berne, Berne, Switzerland, 2 Department of Clinical Veterinary Medicine, Vetsuisse Faculty, University of Berne, ¨ ¨ ¨ ¨ Berne, Switzerland, 3 Astra Zeneca Safety Assessment, RD Sodertalje, Sodertalje, Sweden, 4 Clinic for Small Animals, University of Veterinary Medicine Hannover, Hannover, Germany, 5 Department of Chemistry and Biochemistry, University of Berne, Berne, Switzerland, 6 Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America, 7 Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden Abstract Osteogenesis imperfecta (OI) is a hereditary disease occurring in humans and dogs. It is characterized by extremely fragile bones and teeth. Most human and some canine OI cases are caused by mutations in the COL1A1 and COL1A2 genes encoding the subunits of collagen I. Recently, mutations in the CRTAP and LEPRE1 genes were found to cause some rare forms of human OI. Many OI cases exist where the causative mutation has not yet been found. We investigated Dachshunds with an autosomal recessive form of OI. Genotypin