The First Report of Genetic Polymorphisms of the Equine SPRN Gene in Outbred Horses, Jeju and Halla Horses.
Abstract: Prion disease is a fatal infectious disease caused by the accumulation of pathogenic prion protein (PrP) in several mammals. However, to date, prion disease has not been reported in horses. The Sho protein encoded by the shadow of the prion protein gene (SPRN) plays an essential role in the pathomechanism of prion diseases. To date, the only genetic study of the equine SPRN gene has been reported in the inbred horse, Thoroughbred horse. We first discovered four SPRN single nucleotide polymorphisms (SNPs) in 141 Jeju and 88 Halla horses by direct DNA sequencing. In addition, we found that the genotype, allele and haplotype frequencies of these SNPs of Jeju horses were significantly different from those of Halla and Thoroughbred horses, this latter breed is also included in this study. Furthermore, we observed that the minimum free energy and mRNA secondary structure were significantly different according to haplotypes of equine SPRN polymorphisms by the RNAsnp program. Finally, we compared the SNPs in the coding sequence (CDS) of the SPRN gene between horses and prion disease-susceptible species. Notably, prion disease-susceptible animals had polymorphisms that cause amino acid changes in the open reading frame (ORF) of the SPRN gene, while these polymorphisms were not found in horses.
Publication Date: 2021-09-01 PubMed ID: 34573540PubMed Central: PMC8467739DOI: 10.3390/ani11092574Google Scholar: Lookup
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- Journal Article
Summary
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The research article examines genetic variations of a specific gene (SPRN) in different horse breeds, which may be related to an animal’s susceptibility to prion diseases. The study discovered polymorphisms in the gene that are present in prion disease-susceptible animals, but not in horses.
Study Objectives and Methods
- The study aimed to explore the genetic differences in the SPRN gene among different horse breeds, including Jeju, Halla and Thoroughbred horses, focusing on single nucleotide polymorphisms (SNPs) – variations at a single position in a DNA sequence among individuals.
- The SPRN gene or the shadow of prion protein gene encodes the Sho protein, which is believed to play a significant role in the pathogenesis of prion diseases. Specifically, prion diseases are caused by abnormal folding of the prion protein, leading to brain damage and rapid neurological deterioration.
- The research involved the direct DNA sequencing of the SPRN gene in 141 Jeju and 88 Halla horses, comparing genotype, allele and haplotype frequencies among the horse breeds. The minimum free energy and mRNA secondary structure were also observed according to the different haplotypes.
Key Findings
- The study identified four SNPs of the SPRN gene in Jeju and Halla horses. It was found that the frequencies of these SNPs were significantly different in Jeju horses compared to those of Halla and Thoroughbred horses.
- Additionally, the minimum free energy and mRNA secondary structure showed significant differences based on the haplotypes of the equine SPRN polymorphisms. The RNAsnp program was used to determine this.
- In comparing the SNPs in the coding sequence of the SPRN gene between horses and animals susceptible to prion diseases, it was observed that these prion disease-susceptible animals had polymorphisms that lead to amino acid changes in the open reading frame (ORF) of the SPRN gene. However, these specific polymorphisms were not found in horses.
Implications
- The results of this study emphasize the genetic differences in the SPRN gene among the tested horse breeds, raising questions about why such variations exist and potential implications on susceptibility to disease.
- Importantly, the absence of specific polymorphisms in the horse’s SPRN gene, which are present in prion disease-susceptible animals, may suggest horses have genetic protection against prion diseases. However, further research is required to confirm this.
Cite This Article
APA
Won SY, Kim YC, Do K, Jeong BH.
(2021).
The First Report of Genetic Polymorphisms of the Equine SPRN Gene in Outbred Horses, Jeju and Halla Horses.
Animals (Basel), 11(9), 2574.
https://doi.org/10.3390/ani11092574 Publication
Researcher Affiliations
- Korea Zoonosis Research Institute, Jeonbuk National University, Iksan 54531, Jeonbuk, Korea.
- Department of Bioactive Material Sciences and Institute for Molecular Biology and Genetics, Jeonbuk National University, Jeonju 54896, Jeonbuk, Korea.
- Korea Zoonosis Research Institute, Jeonbuk National University, Iksan 54531, Jeonbuk, Korea.
- Department of Bioactive Material Sciences and Institute for Molecular Biology and Genetics, Jeonbuk National University, Jeonju 54896, Jeonbuk, Korea.
- Laboratory of Equine Science, Department of Animal Biotechnology, Faculty of Biotechnology, Jeju National University, Jeju 63243, Korea.
- Korea Zoonosis Research Institute, Jeonbuk National University, Iksan 54531, Jeonbuk, Korea.
- Department of Bioactive Material Sciences and Institute for Molecular Biology and Genetics, Jeonbuk National University, Jeonju 54896, Jeonbuk, Korea.
Grant Funding
- 2017R1A6A1A03015876 / National Research Foundation of Korea
- 2021R1A2C1013213 / National Research Foundation of Korea
Conflict of Interest Statement
The authors declare no conflict of interest.
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Citations
This article has been cited 2 times.- Kim YC, Kim HH, Kim AD, Jeong BH. Novel insertion/deletion polymorphisms and genetic features of the shadow of prion protein gene (SPRN) in dogs, a prion-resistant animal.. Front Vet Sci 2022;9:942289.
- Kim YC, Kim HH, Jeong BH. The First Report of Polymorphisms and Genetic Characteristics of the Shadow of Prion Protein (SPRN) in Prion Disease-Resistant Animal, Chickens.. Front Vet Sci 2022;9:904305.
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