Novel Single-Nucleotide Polymorphisms (SNPs) and Genetic Studies of the Shadow of Prion Protein (SPRN) in Quails
Abstract
Simple Summary The presence of the shadow of prion protein (Sho) produced by the shadow of prion protein gene (SPRN) has been correlated with prion disease. In this study, we identified the SPRN gene sequence and examined its genetic variations in quails. The quail and chicken Sho amino acid sequences showed 100% identity. A total of 13 novel polymorphisms were found in 106 quails, and three out of four non-synonymous SNPs (A68T, L74P, and M105I) showed deleterious effects on quail Sho. A comparison of genetic polymorphisms in the open reading frame revealed differences in SPRN between quails and other mammals and avians. The genetic characteristics of the quail SPRN gene are being investigated for the first time in this study. Abstract Prion diseases are a group of deadly neurodegenerative disorders caused by the accumulation of the normal prion protein (PrPC) into misfolding pathological conformations (PrPSc). The PrP gene is essential for the development of prion diseases. Another candidate implicated in prion pathogenesis is the shadow of the prion protein (SPRN) gene. To date, genetic polymorphisms of the SPRN gene and the structure of the Sho protein have not been explored in quails. We used polymerase chain reaction (PCR) to amplify the SPRN gene sequence and then conducted Sanger DNA sequencing to identify the genetic polymorphisms in quail SPRN. Furthermore, we examined the genotype, allele, and haplotype frequencies, and assessed the linkage disequilibrium among…
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