title: Identification of an allelic variant of the goat PrP gene associated with resistance to scrapie.
abstract: The association between PrP gene variations and scrapie susceptibility was studied in a single herd of Ionica breed goats. The entire herd comprised 100 animals, 11 of which were clinically affected and showed pathological prion protein (PrP(Sc)) deposition in both their central nervous system (CNS) and lymphoreticular system (LRS). Among asymptomatic goats, nine harboured PrP(Sc) in both CNS and LRS, 19 showed PrP(Sc) only at the LRS level and 61 animals had no PrP(Sc) deposition. Genetic analysis of the PrP gene coding sequence revealed the presence of several polymorphisms, namely G37V, T110P, H143R, R154H, Q222K and P240S. Silent polymorphisms were also found at codons 42, 138, 219 and 232. The effect of PrP polymorphism on scrapie susceptibility was assessed by comparing the genotype distribution at each locus among animals with different pathogenetic and clinical disease stages. Significant differences in the distribution of genotypes were observed for codons 154 and 222, with polymorphism at codon 154 modulating susceptibility to scrapie and lysine at codon 222 being associated with scrapie resistance. The allelic variant encoding lysine at position 222 could be a valuable candidate to select in the framework of appropriate breeding programmes for scrapie resistance in goats.
authors.affiliation: Department of Food Safety and Veterinary Public Health, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Vaccari
authors.affiliation: Department of Food Safety and Veterinary Public Health, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: Michele A Di
authors.initials: MAD
authors.lastname: Bari
authors.affiliation: Department of Food Safety and Veterinary Public Health, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: Luisella
authors.initials: L
authors.lastname: Morelli
authors.affiliation: Department of Food Safety and Veterinary Public Health, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: Romolo
authors.initials: R
authors.lastname: Nonno
authors.affiliation: Department of Food Safety and Veterinary Public Health, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Chiappini
authors.affiliation: Department of Food Safety and Veterinary Public Health, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Antonucci
authors.affiliation: Department of Food Safety and Veterinary Public Health, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Marcon
authors.affiliation: Department of Food Safety and Veterinary Public Health, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Esposito
authors.affiliation: Department of Food Safety and Veterinary Public Health, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Fazzi
authors.affiliation: Department of Food Safety and Veterinary Public Health, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: Nadia
authors.initials: N
authors.lastname: Palazzini
authors.affiliation: Istituto Zooprofilattico Sperimentale della Puglia e della Basilicata, Via Manfredonia 20, 71100 Foggia, Italy.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Troiano
authors.affiliation: Istituto Zooprofilattico Sperimentale della Puglia e della Basilicata, Via Manfredonia 20, 71100 Foggia, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Petrella
authors.affiliation: Department of Comparative Biomedical Sciences, Faculty of Veterinary Medicine, University of Teramo, Piazza Aldo Moro 45, 64100 Teramo, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Di Guardo
authors.affiliation: Department of Food Safety and Veterinary Public Health, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: Umberto
authors.initials: U
authors.lastname: Agrimi
mesh_terms: D000483:Alleles; D000822:Animal Husbandry; D000818:Animals; D002490:Central Nervous System / Q000737:chemistry; D006041:Goats; D007558:Italy; D008221:Lymphoid Tissue / Q000737:chemistry; D008239:Lysine; D011110:Polymorphism, Genetic; D018620:PrPSc Proteins / Q000235:genetics* / Q000302:isolation & purification*; D012608:Scrapie / Q000209:etiology* / Q000235:genetics / Q000517:prevention & control
chemical_list: D018620:PrPSc Proteins; D008239:Lysine