title: Association of an indel polymorphism in the 3'UTR of the caprine SPRN gene with scrapie positivity in the central nervous system.
abstract: The aim of this study was to analyse the SPRN genes of goats from several scrapie outbreaks in order to detect polymorphisms and to look for association with scrapie occurrence, by an unmatched case-control study. A region of the caprine SPRN gene encompassing the entire ORF and a fragment of the 3'UTR revealed a total of 11 mutations: 10 single-nucleotide polymorphisms and one indel polymorphism. Only two non-synonymous mutations occurring at very low incidence were identified. A significant association with scrapie positivity in the central nervous system was found for an indel polymorphism (602_606insCTCCC) in the 3'UTR. Bioinformatics analyses suggest that this indel may modulate scrapie susceptibility via a microRNA-mediated post-transcriptional mechanism. This is the first study to demonstrate an association between the SPRN gene and goat scrapie. The identified indel may serve as a genetic target other than PRNP to predict disease risk in future genetics-based scrapie-control approaches in goats.
authors.affiliation: Department of Genetics and Immunobiochemistry, Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d'Aosta, via Bologna 148, 10154 Turin, Italy.
authors.forename: Simone
authors.initials: S
authors.lastname: Peletto
authors.affiliation: Department of Biostatistics, Epidemiology and Risk Analysis, Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d'Aosta, via Bologna 148, 10154 Turin, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Bertolini
authors.affiliation: Department of Genetics and Immunobiochemistry, Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d'Aosta, via Bologna 148, 10154 Turin, Italy.
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Maniaci
authors.affiliation: Department of Genetics and Immunobiochemistry, Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d'Aosta, via Bologna 148, 10154 Turin, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Colussi
authors.affiliation: Department of Genetics and Immunobiochemistry, Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d'Aosta, via Bologna 148, 10154 Turin, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Modesto
authors.affiliation: Department of Genetics and Immunobiochemistry, Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d'Aosta, via Bologna 148, 10154 Turin, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Biolatti
authors.affiliation: Department of Genetics and Immunobiochemistry, Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d'Aosta, via Bologna 148, 10154 Turin, Italy.
authors.forename: Simone
authors.initials: S
authors.lastname: Bertuzzi
authors.affiliation: Department of Genetics and Immunobiochemistry, Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d'Aosta, via Bologna 148, 10154 Turin, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Caramelli
authors.affiliation: Department of Biostatistics, Epidemiology and Risk Analysis, Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d'Aosta, via Bologna 148, 10154 Turin, Italy.
authors.forename: Cristiana
authors.initials: C
authors.lastname: Maurella
authors.affiliation: Department of Genetics and Immunobiochemistry, Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d'Aosta, via Bologna 148, 10154 Turin, Italy.
authors.forename: Pier Luigi
authors.initials: PL
authors.lastname: Acutis
mesh_terms: D020413:3' Untranslated Regions; D000818:Animals; D016022:Case-Control Studies; D004198:Disease Susceptibility; D015511:Goat Diseases / Q000235:genetics*; D006041:Goats; D054643:INDEL Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012608:Scrapie / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D009419:Nerve Tissue Proteins