Novel polymorphisms and functional characterization of the prion protein gene in sparrows (Passer montanus)
Abstract
Background Misfolding of the prion protein (PrP) into an aberrant conformation causes prion diseases in several mammalian species; however, no prion infections have been documented in birds so far. The prion protein gene (PRNP) has been extensively studied in mammals, but little is known about PRNP polymorphisms in avian species and their potential roles in resistance to prion pathogenesis. However, the genetic variation of the sparrow PRNP gene remains largely uncharacterized. Materials and methods To better understand the genetic diversity of PRNP gene in sparrows, we sequenced the coding region from genomic DNA of 44 individuals. We analyzed the genetic characteristics of the sparrow PRNP gene, including genotype, allele, and haplotype distributions, as well as linkage disequilibrium (LD) among single nucleotide polymorphisms (SNPs) and insertion/deletion (indel) variants. The functional effects of the identified polymorphisms were predicted using multiple in silico tools, including PolyPhen-2, SIFT, AMYCO, SODA, and MutPred-Indel. In addition, the structural impact of non-synonymous substitutions was assessed by structural modeling tools, and the amino acid sequences of the hexapeptide tandem repeat were compared across avian species. Results A total of 24 polymorphisms were identified in the sparrow PRNP gene, including 9 non-synonymous substitutions and 3 indels. Among these, the A121V substitution was predicted to have the most detrimental effect, causing pronounced…
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