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

Min-Ju Jeong; Zerui Wang; Wen-Quan Zou; Yong-Chan Kim; Byung-Hoon Jeong

doi:10.3389/fvets.2023.1273050

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

Front Vet Sci. 2023 Nov 8:10:1273050. doi: 10.3389/fvets.2023.1273050. eCollection 2023.

Authors

Min-Ju Jeong^{1

2}, Zerui Wang³, Wen-Quan Zou³, Yong-Chan Kim⁴, Byung-Hoon Jeong^{1

2

3}

Affiliations

¹ Korea Zoonosis Research Institute, Jeonbuk National University, Iksan, Republic of Korea.
² Department of Bioactive Material Sciences, Jeonbuk National University, Jeonju, Republic of Korea.
³ Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, OH, United States.
⁴ Department of Biological Sciences, Andong National University, Andong, Republic of Korea.

Abstract

Background: Prion diseases have been extensively reported in various mammalian species and are caused by a pathogenic prion protein (PrP^Sc), which is a misfolded version of cellular prion protein (PrP^C). Notably, no cases of prion disease have been reported in birds. Single nucleotide polymorphisms (SNPs) of the prion protein gene (PRNP) that encodes PrP have been associated with susceptibility to prion diseases in several species. However, no studies on PRNP polymorphisms in domestic ducks have been reported thus far.

Method: To investigate PRNP polymorphisms in domestic ducks, we isolated genomic DNA from 214 Pekin duck samples and sequenced the coding region of the Pekin duck PRNP gene. We analyzed genotype, allele, and haplotype distributions and linkage disequilibrium (LD) among the SNPs of the Pekin duck PRNP 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 & GO, SODA, and AMYCO in silico prediction programs.

Results: We found five novel SNPs, c.441 T > C, c.495 T > C, c.582A > G, c.710C > T(P237L), and c.729C > T, in the ORF region of the PRNP gene in 214 Pekin duck samples. We observed strong LD between c.441 T > C and c.582A > G (0.479), and interestingly, the link between c.495 T > C and c.729C > T was in perfect LD, with an r² 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 > 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.

Conclusion: To the best of our knowledge, this study is the first report on the genetic characteristics of PRNP SNPs in Pekin ducks.

Keywords: PRNP; Pekin duck; duck; polymorphism; prion protein gene; susceptibility.

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This research was supported by the Basic Science Research Program through the National Research Foundation (NRF) of Korea funded by the Ministry of Education (2017R1A6A1A03015876, 2021R1A6A3A01086488). This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korean government (MSIT) (2021R1A2C1013213) (2022R1C1C2004792). This research was supported by Korea Basic Science Institute (National research Facilities and Equipment Center) grant funded by the Ministry of Education (grant No. 2021R1A6C101C369).