Page 10 - L. Genetics and genomics

[L. Genetics and genomics-12]

The first report of genetic and structural diversities in the

SPRN gene in the horse, an animal resistant to prion disease

Sae-Young Won¹˙², Byung-Hoon Jeong¹˙²

¹Department of Bioactive Material Sciences, Jeonbuk National University, Jeonju 54896, South Korea, ²Korea

Zoonosis Research Institute , Jeonbuk National University, Iksan 54531, South Korea

Prion diseases are fatal neurodegenerative diseases and are characterized by the accumulation of abnormal prion
protein (PrPSc) in the brain. During the outbreak of the bovine spongiform encephalopathy (BSE) epidemic in the

United Kingdom, prion diseases in several species were reported; however, horse prion disease has not been

reported thus far. In previous studies, shadow of prion protein (Sho) has contributed to an acceleration of conversion
from normal prion protein (PrPC) to PrPSc, and shadow of prion protein gene (SPRN) polymorphisms have been
significantly associated with the susceptibility of prion diseases. We investigated the genotype, allele and haplotype

frequencies of the SPRN gene using direct sequencing. In addition, we analyzed linkage disequilibrium (LD) and
haplotypes among polymorphisms. We also investigated LD between PRNP and SPRN SNPs. We compared the

amino acid sequences of Sho protein between the horse and several prion disease-susceptible species using
ClustalW2. To perform Sho protein modeling, we utilized SWISS-MODEL and Swiss-PdbViewer programs. We found

a total of 4 polymorphisms in the equine SPRN gene; however, we did not observe an in/del polymorphism, which
is correlated with the susceptibility of prion disease in prion disease-susceptible anima