PrP gene polymorphisms in Cyprus goats and their association with resistance or susceptibility to natural scrapie

• Published in: The veterinary journal (1997) 2011-02, Vol.187 (2), p.245-250
• Main Authors: Papasavva-Stylianou, Penelope, Windl, Otto, Saunders, Ginny, Mavrikiou, Petroula, Toumazos, Pavlos, Kakoyiannis, Charalambos
• Format: Article
• Language: English
• Subjects: Alleles; Amino Acids - genetics; Animals; aspartic acid; Case-Control Studies; Codon - genetics; Cyprus; genetic polymorphism; Genetic Predisposition to Disease; Genotype; Goat Diseases - genetics; Goats; Goats - genetics; heterozygosity; homozygosity; Polymorphism, Genetic - genetics; Polymorphisms; prions; Prions - genetics; PrP gene; Scrapie; Scrapie - genetics; Sequence Analysis, DNA - veterinary; serine; sheep; stop codon
• ISSN: 1090-0233; 1532-2971
• DOI: 10.1016/j.tvjl.2009.10.015

In contrast to scrapie in sheep, the genetic basis of susceptibility to scrapie in goats is not well understood. To study the association of prion protein ( PrP) alleles with susceptibility to scrapie in goats in Cyprus, the coding sequence of the caprine PrP gene was determined in 717 goats, including 218 scrapie positive animals. Several novel polymorphisms were detected, such as a novel octarepeat variant and a stop codon mutation. Amino acids at codons 146 and 154 were associated with susceptibility to goat scrapie. Animals heterozygous for serine (S) and aspartate (D) at codon 146 were significantly under-represented in scrapie positive animals and no positive animals were found that were homozygous for these amino acids at codon 146. These results might provide the basis for genetic control of scrapie in Cypriot goats.