title: Analysis of sequence variability of the bovine prion protein gene (PRNP) in German cattle breeds.
abstract: Different alleles of the prion protein gene (PRNP) of human and sheep are known to be associated with varying susceptibilities to transmissible spongiform encephalopathies. However, no polymorphisms in the bovine PRNP gene with an effect on susceptibility to prion diseases have been identified to date. In this study we investigated such polymorphisms in German cattle; 48 healthy animals from six different German cattle breeds and 43 cattle with bovine spongiform encephalopathy (BSE) were analyzed. In contrast to previous studies, all three exons as well as the promoter region of the PRNP gene were investigated. Sequence variants in the bovine PRNP gene could have an impact on the amino acid sequence or the expression level of the prion protein and thus on susceptibility to BSE. We identified a total of 60 polymorphisms in the PRNP gene of German cattle. Of these 60 polymorphisms, 36 were newly identified, whereas 24 of these polymorphisms had been described previously. We did not detect any novel polymorphisms affecting the amino acid sequence of the prion protein. However, we identified a 23-bp insertion/deletion polymorphism in the putative PRNP promoter region that shows a significant association with BSE susceptibility in our animals.
authors.affiliation: Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, Bünteweg 17 p, 30559 Hannover, Germany.
authors.forename: Petra
authors.initials: P
authors.lastname: Sander
authors.forename: Henning
authors.initials: H
authors.lastname: Hamann
authors.forename: Ina
authors.initials: I
authors.lastname: Pfeiffer
authors.forename: Wilhelm
authors.initials: W
authors.lastname: Wemheuer
authors.forename: Bertram
authors.initials: B
authors.lastname: Brenig
authors.forename: Martin H
authors.initials: MH
authors.lastname: Groschup
authors.forename: Ute
authors.initials: U
authors.lastname: Ziegler
authors.forename: Ottmar
authors.initials: O
authors.lastname: Distl
authors.forename: Tosso
authors.initials: T
authors.lastname: Leeb
mesh_terms: D000682:Amyloid / Q000235:genetics*; D000818:Animals; D002417:Cattle; D016643:Encephalopathy, Bovine Spongiform / Q000235:genetics*; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005858:Germany; D006239:Haplotypes; D020641:Polymorphism, Single Nucleotide; D000072002:Prion Proteins; D011328:Prions; D011401:Promoter Regions, Genetic / Q000235:genetics; D011498:Protein Precursors / Q000235:genetics*
chemical_list: D000682:Amyloid; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors