First Report of Single Nucleotide Polymorphisms (SNPs) of the Leporine Shadow of Prion Protein Gene (<i>SPRN</i>) and Absence of Nonsynonymous SNPs in the Open Reading Frame (ORF) in Rabbits

Abstract

Prion disorders are fatal infectious diseases that are caused by a buildup of pathogenic prion protein (PrP^Sc) in susceptible mammals. According to new findings, the shadow of prion protein (Sho) encoded by the shadow of prion protein gene (<i>SPRN</i>) is associated with prion protein (PrP), promoting the progression of prion diseases. Although genetic polymorphisms in <i>SPRN</i> are associated with susceptibility to several prion diseases, genetic polymorphisms in the rabbit <i>SPRN</i> gene have not been investigated in depth. We discovered two novel single nucleotide polymorphisms (SNPs) in the leporine <i>SPRN</i> gene on chromosome 18 and found strong linkage disequilibrium (LD) between them. Additionally, strong LD was not found between the polymorphisms of <i>PRNP</i> and <i>SPRN</i> genes in rabbits. Furthermore, nonsynonymous SNPs that alter the amino acid sequences within the open reading frame (ORF) of <i>SPRN</i> have been observed in prion disease-susceptible animals, but this is the first report in rabbits. As far as we are aware, this study represents the first examination of the genetic features of the rabbit <i>SPRN</i> gene.