AUTHOR=Jeong Min-Ju , Wang Zerui , Zou Wen-Quan , Kim Yong-Chan , Jeong Byung-Hoon 

TITLE=The first report of polymorphisms of the prion protein gene (PRNP) in Pekin ducks (Anas platyrhynchos domestica)

JOURNAL=Frontiers in Veterinary Science

VOLUME=10

YEAR=2023

URL=https://www.frontiersin.org/journals/veterinary-science/articles/10.3389/fvets.2023.1273050

DOI=10.3389/fvets.2023.1273050

ISSN=2297-1769

ABSTRACT=<sec id="sec1"><title>Background</title><p>Prion diseases have been extensively reported in various mammalian species and are caused by a pathogenic prion protein (PrP<sup>Sc</sup>), which is a misfolded version of cellular prion protein (PrP<sup>C</sup>). Notably, no cases of prion disease have been reported in birds. Single nucleotide polymorphisms (SNPs) of the prion protein gene (<italic>PRNP</italic>) that encodes PrP have been associated with susceptibility to prion diseases in several species. However, no studies on <italic>PRNP</italic> polymorphisms in domestic ducks have been reported thus far.</p></sec><sec id="sec2"><title>Method</title><p>To investigate <italic>PRNP</italic> polymorphisms in domestic ducks, we isolated genomic DNA from 214 Pekin duck samples and sequenced the coding region of the Pekin duck <italic>PRNP</italic> gene. We analyzed genotype, allele, and haplotype distributions and linkage disequilibrium (LD) among the SNPs of the Pekin duck <italic>PRNP</italic> gene. In addition, we evaluated the effects of the one non-synonymous SNP on the function and structure of PrP using the PROVEAN, PANTHER, SNPs &amp; GO, SODA, and AMYCO <italic>in silico</italic> prediction programs.</p></sec><sec id="sec3"><title>Results</title><p>We found five novel SNPs, c.441 T &gt; C, c.495 T &gt; C, c.582A &gt; G, c.710C &gt; T(P237L), and c.729C &gt; T, in the ORF region of the <italic>PRNP</italic> gene in 214 Pekin duck samples. We observed strong LD between c.441 T &gt; C and c.582A &gt; G (0.479), and interestingly, the link between c.495 T &gt; C and c.729C &gt; T was in perfect LD, with an <italic>r</italic><sup>2</sup> value of 1.0. In addition, we identified the five major haplotype frequencies: TTACC, CTGCC, CTACC, CCGCT, and CTATC. Furthermore, we found that the non-synonymous SNP, c.710C &gt; T (P237L), had no detrimental effects on the function or structure of Pekin duck PrP. However, the non-synonymous SNP had deleterious effects on the aggregation propensity and solubility of Pekin duck PrP compared with wildtype Pekin duck PrP.</p></sec><sec id="sec4"><title>Conclusion</title><p>To the best of our knowledge, this study is the first report on the genetic characteristics of <italic>PRNP</italic> SNPs in Pekin ducks.</p></sec>