Comparative analysis of genetic distribution of bovine spongiform encephalopathy (BSE)-related single nucleotide polymorphisms (SNPs) in the prion protein gene (PRNP) among three Korean cattle breeds

Prion protein, which is encoded by the prion protein gene (PRNP), is essential for the development of prion diseases, including bovine spongiform encephalopathy (BSE) in cattle. A previous study reported that two single nucleotide polymorphisms (SNPs), 4136 and 13861, in the bovine PRNP gene were associated with susceptibility to BSE in UK cattle. Although these two SNPs were briefly reported in Hanwoo and Korean Holstein cattle in our earlier study, their presence has not been confirmed in Jeju Black cattle, a Korean native breed. Therefore, we investigated PRNP polymorphisms using 94 Jeju Black cattle and conducted a comparative analysis of their genotype and allele frequencies. We found five SNPs and compared the genotype and allele frequencies of these SNPs among three Korean cattle breeds. The genotype distribution of SNP 4136 significantly differed between Jeju Black and Korean Holstein cattle, while the allele distribution of SNP 13861 significantly differed between Jeju Black cattle and both Hanwoo and Korean Holstein cattle. Comparative analyses revealed significant differences in the allele distributions of SNPs 4136 and 13861 between Jeju Black cattle and cattle breeds from other countries. These findings may provide valuable fundamental data for future genetic studies on prion disease susceptibility.