Page 18 - L. Genetics and genomics

[L. Genetics and genomics-16]

Bovine spongiform encephalopathy (BSE)-associated

polymorphisms of shadow of prion protein gene (SPRN) in

Korean native cattle (Hanwoo) and Holstein cattle

Yong-Chan Kim¹˙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

Bovine spongiform encephalopathy (BSE) is a fatal infectious neurodegenerative disease caused by the accumulation
of pathogenic prion protein (PrPSc) in the central nervous system (CNS), particularly in the brain. In a recent study,

the shadow of prion protein (Sho), encoded by the shadow of prion protein (SPRN) gene, accelerates the progression
of prion diseases, and a 12-bp insertion/deletion polymorphism in the coding region of the SPRN gene is associated

with susceptibility to atypical BSE-affected Polish cattle. To date, the genetic study of the SPRN gene in Korean
cattle has not been performed. In this study, we investigated the genotype and allele frequencies of SPRN

polymorphisms in 193 Hanwoo and 168 Holstein cattle and analyzed the linkage disequilibrium (LD) and haplotypes
of SPRN polymorphisms. In addition, we compared the distribution of the 12-bp insertion/deletion polymorphism

between atypical BSE-diagnosed Polish cattle and Korean cattle to evaluate the susceptibility of atypical BSE.
Furthermore, we estimated a deleterious effect of polymorphisms on the Sho protein using PROVEAN. We found a

total of 7 polymorphisms, including 1 novel single nucleotide polymorphism (SNP), c.231G>A. We also found
significantly different distributions of genotype, allele and haplotype frequencies of 7 polymorphisms between

Hanwoo and Korean Holstein cattle. In addition, except for the weak LD between the 12-bp insertion/deletion
polymorphism and the c.360G>A SNP, all other polymorphisms showed strong LDs among the 7 polymorphisms.

Interestingly, Hanwoo cattle showed more potential susceptible distribution in the genotype and allele frequencies
of the 12-bp insertion/deletion polymorphisms of the SPRN gene than Holstein cattle. Finally, using PROVEAN, we

found 1 novel deleterious nonsynonymous SNP to Sho protein, c.110G>C (G37A). To the best of our knowledge,
this is the first study of the SPRN gene in Korean cattle.