title: Ovine PRNP untranslated region and promoter haplotype diversity.
abstract: The diversity and possible contribution of non-coding regions of the prion protein (PrP) gene (PRNP) to transmissible spongiform encephalopathy susceptibility and PrP regulation are not fully known. This study defined ten ovine PRNP promoters and five untranslated region (UTR) haplotypes found in atypical and classical scrapie cases and healthy control sheep. A greater diversity of promoter and UTR haplotypes was observed in conjunction with the ARQ PrP allele (seven promoter and four UTR haplotypes), while it was observed that the other alleles were linked with a limited number of haplotypes, such as ARR, found to be linked to only two promoter and one UTR haplotypes. In silico analysis identified potential transcription factor binding sites that differed in the promoter haplotype variants. Furthermore, a 5' UTR internal ribosome entry site motif was identified in exon 2 and highlights a possible role for this exon in regulating PrP expression at the translational level.
authors.affiliation: Department of Molecular Pathogenesis and Genetics, Veterinary Laboratories Agency, New Haw, Addlestone, Surrey KT15 3NB, UK.
authors.forename: Ginny C
authors.initials: GC
authors.lastname: Saunders
authors.affiliation: Department of Molecular Pathogenesis and Genetics, Veterinary Laboratories Agency, New Haw, Addlestone, Surrey KT15 3NB, UK.
authors.forename: Saira
authors.initials: S
authors.lastname: Cawthraw
authors.affiliation: Department of Molecular Pathogenesis and Genetics, Veterinary Laboratories Agency, New Haw, Addlestone, Surrey KT15 3NB, UK.
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Mountjoy
authors.affiliation: Department of Molecular Pathogenesis and Genetics, Veterinary Laboratories Agency, New Haw, Addlestone, Surrey KT15 3NB, UK.
authors.forename: Anna C
authors.initials: AC
authors.lastname: Tout
authors.affiliation: Department of Molecular Pathogenesis and Genetics, Veterinary Laboratories Agency, New Haw, Addlestone, Surrey KT15 3NB, UK.
authors.forename: Anthony R
authors.initials: AR
authors.lastname: Sayers
authors.affiliation: Department of Molecular Pathogenesis and Genetics, Veterinary Laboratories Agency, New Haw, Addlestone, Surrey KT15 3NB, UK.
authors.forename: Jim
authors.initials: J
authors.lastname: Hope
authors.affiliation: Department of Molecular Pathogenesis and Genetics, Veterinary Laboratories Agency, New Haw, Addlestone, Surrey KT15 3NB, UK.
authors.forename: Otto
authors.initials: O
authors.lastname: Windl
mesh_terms: D000818:Animals; D014644:Genetic Variation; D006239:Haplotypes / Q000235:genetics; D011328:Prions / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012608:Scrapie / Q000235:genetics*; D012756:Sheep; D020506:Untranslated Regions / Q000235:genetics*
chemical_list: D011328:Prions; D020506:Untranslated Regions