title: Characterization of PRNP and SPRN coding regions from atypical scrapie cases diagnosed in Poland.
abstract: Scrapie, a fatal transmissible spongiform encephalopathy (TSE) occurs in two phenotypes: classical and atypical. Many authors point out that the polymorphism of three codons (136, 154, 171) of the PRNP (PrP gene) is associated with a sheep susceptibility to classical scrapie. Until now, only one PRNP gene variant coding phenylalanine at codon 141 has been found to be associated with atypical scrapie. Another recently identified and interesting candidate gene for scrapie susceptibility in sheep is an SPRN gene coding for Shadoo protein (Sho). Sho is a highly interspecies conserved protein and an insertion/deletion (indel) found in a sheep Sho gene was associated with classical scrapie occurrence. Here we determined the polymorphism of PRNP and SPRN genes in nine atypical scrapie cases (six in native born sheep and three in imported sheep) and compared these results with a control group of healthy animals comprising six corresponding Polish sheep breeds. In atypical scrapie cases five PRNP diplotypes were identified: A(136)R(154)Q(171)/ARQ, AHQ/ARQ, ARR/ARQ, ARR/AHQ and AHQ/AHQ. The ARR/AHQ diplotype was found only in imported sheep. A previously unobserved SNP in PRNP (E224K) was also found in both atypical scrapie and in a few control animals. In the ORF of the SPRN gene, six SNPs and one indel were identified. None of these variations was exclusive for scrapie animals and they were probably, naturally occurring polymorphisms. Special attention was given to the 6-bp indel SPRN polymorphism which was previously associated with classical scrapie occurrence.
authors.affiliation: Department of Animal Immuno- and Cytogenetics, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice n Krakow, Poland.
authors.forename: Agata
authors.initials: A
authors.lastname: Piestrzyńska-Kajtoch
authors.forename: Artur
authors.initials: A
authors.lastname: Gurgul
authors.forename: Mirosław P
authors.initials: MP
authors.lastname: Polak
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Smołucha
authors.forename: Jan F
authors.initials: JF
authors.lastname: Zmudziński
authors.forename: Barbara
authors.initials: B
authors.lastname: Rejduch
mesh_terms: D000818:Animals; D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D058851:GPI-Linked Proteins / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies / Q000662:veterinary; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011044:Poland; D011110:Polymorphism, Genetic / Q000235:genetics*; D011328:Prions / Q000235:genetics*; D012608:Scrapie / Q000145:classification / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000662:veterinary; D012756:Sheep
chemical_list: D017931:DNA Primers; D058851:GPI-Linked Proteins; D009419:Nerve Tissue Proteins; D011328:Prions