First report of a novel polymorphism and genetic characteristics of the leporine prion protein (PRNP) gene

Front Vet Sci. 2023 Sep 22:10:1229369. doi: 10.3389/fvets.2023.1229369. eCollection 2023.

Abstract

Transmissible spongiform encephalopathies (TSEs) have been reported in a broad spectrum of hosts. The genetic polymorphisms and characteristics of the prion protein (PRNP) gene have a vital impact on the development of TSEs. Notably, natural TSE infection cases have never been reported in rabbits, and genetic variations of the leporine PRNP gene have not been investigated to date. To identify leporine PRNP gene polymorphism, we performed amplicon sequencing in 203 rabbits. We report a novel single nucleotide polymorphism on the leporine PRNP gene. In addition, we performed a comparative analysis of amino acid sequences of prion protein (PrP) across several hosts using ClustalW2. Furthermore, we evaluated the effect of changes of unique leporine PrP amino acids with those conserved among various species using Swiss-Pdb Viewer. Interestingly, we found seven unique leporine amino acids, and the change of unique leporine amino acids with those conserved among other species, including S175N, Q221K, Q221R, A226Y, A230G, and A230S, was predicted to reduce hydrogen bonds in leporine PrP.

Keywords: PRNP; SNP; polymorphism; prion; rabbit.

Grants and funding

This research was supported by the Basic Science Research Program through the National Research Foundation (NRF) of Korea funded by the Ministry of Education (Grant Nos. 2017R1A6A1A03015876 and 2021R1A6A3A01086488), the National Research Foundation of Korea (NRF) grant funded by the Korean government (MSIT) (Grant Nos. 2021R1A2C1013213 and 2022R1C1C2004792), and Korea Basic Science Institute (National Research Facilities and Equipment Center) grant funded by the Ministry of Education (Grant No. 2021R1A6C101C369). DJ-K was supported by the BK21 Plus Program in the Department of Bioactive Material Sciences.