NDLI: Identification of a novel risk factor for chronic wasting disease (CWD) in elk: S100G single nucleotide polymorphism (SNP) of the prion protein gene (PRNP)

Content Provider	Springer Nature : BioMed Central
Author	Lee, Yu-Ran Kim, Yong-Chan Won, Sae-Young Jeong, Min-Ju Park, Kyung-Je Park, Hoo-Chang Roh, In-Soon Kang, Hae-Eun Sohn, Hyun-Joo Jeong, Byung-Hoon
Abstract	Prion diseases are fatal and malignant infectious encephalopathies induced by the pathogenic form of prion protein (PrPSc) originating from benign prion protein (PrPC). A previous study reported that the M132L single nucleotide polymorphism (SNP) of the prion protein gene (PRNP) is associated with susceptibility to chronic wasting disease (CWD) in elk. However, a recent meta-analysis integrated previous studies that did not find an association between the M132L SNP and susceptibility to CWD. Thus, there is controversy about the effect of M132L SNP on susceptibility to CWD. In the present study, we investigated novel risk factors for CWD in elk. We investigated genetic polymorphisms of the PRNP gene by amplicon sequencing and compared genotype, allele, and haplotype frequencies between CWD-positive and CWD-negative elk. In addition, we performed a linkage disequilibrium (LD) analysis by the Haploview version 4.2 program. Furthermore, we evaluated the 3D structure and electrostatic potential of elk prion protein (PrP) according to the S100G SNP using AlphaFold and the Swiss-PdbViewer 4.1 program. Finally, we analyzed the free energy change of elk PrP according to the S100G SNP using I-mutant 3.0 and CUPSAT. We identified 23 novel SNP of the elk PRNP gene in 248 elk. We found a strong association between PRNP SNP and susceptibility to CWD in elk. Among those SNP, S100G is the only non-synonymous SNP. We identified that S100G is predicted to change the electrostatic potential and free energy of elk PrP. To the best of our knowledge, this was the first report of a novel risk factor, the S100G SNP, for CWD.
Related Links	https://veterinaryresearch.biomedcentral.com/counter/pdf/10.1186/s13567-023-01177-7.pdf
Ending Page	11
Page Count	11
Starting Page	1
File Format	HTM / HTML
ISSN	12979716
DOI	10.1186/s13567-023-01177-7
Journal	Veterinary Research
Issue Number	1
Volume Number	54
Language	English
Publisher	BioMed Central
Publisher Date	2023-06-16
Access Restriction	Open
Subject Keyword	Veterinary Medicine Veterinary Science Virology Microbiology Immunology PRNP CWD prion elk S100G SNP risk factor Veterinary Medicine/Veterinary Science
Content Type	Text
Resource Type	Article
Subject	Veterinary Medicine
Journal Impact Factor	3.7/2023
5-Year Journal Impact Factor	3.8/2023

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