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Genetic variability of the prion protein gene (PRNP) in wild ruminants from Italy and Scotland
Authors:Simone Peletto  Matteo Perucchini  Cristina Ac��n  Mark P Dalgleish  Hugh W Reid  Roberto Rasero  Paola Sacchi  Paula Stewart  Maria Caramelli  Ezio Ferroglio  Elena Bozzetta  Daniela Meloni  Riccardo Orusa  Serena Robetto  Silvia Gennero  Wilfred Goldmann  Pier Luigi Acutis
Abstract:The genetics of the prion protein gene (PRNP) play a crucial role in determining the relative susceptibility to transmissible spongiform encephalopathies (TSEs) in several mammalian species. To determine the PRNP gene variability in European red deer (Cervus elaphus), roe deer (Capreolus capreolus) and chamois (Rupicapra rupicapra), the PRNP open reading frame from 715 samples was analysed to reveal a total of ten single nucleotide polymorphisms (SNPs). In red deer, SNPs were found in codons 15, 21, 59, 78, 79, 98, 136, 168 and 226. These polymorphisms give rise to 12 haplotypes, and one of which is identical to the PRNP of American wapiti (Rocky Mountain elk, Cervus elaphus nelsoni). One silent mutation at codon 119 was detected in chamois and no SNPs were found in roe deer. This analysis confirmed that European wild ruminants have a PRNP genetic background that is compatible with TSE susceptibility, including chronic wasting disease.
Keywords:phylogenetic tree  polymorphism  PRNP  transmissible spongiform encephalopathies  wild ruminants
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