Abstract
Small ruminants, including sheep and goats are natural hosts of scrapie, and the progression of scrapie pathogenesis is strongly influenced by polymorphisms in the prion protein gene (PRNP). Although Korean native goats have been consumed as meat and health food, the evaluation of the susceptibility to scrapie in these goats has not been performed thus far. Therefore, we investigated the genotype and allele frequencies of PRNP polymorphisms in 211 Korean native goats and compared them with those in scrapie-affected animals from previous studies. We found a total of 12 single nucleotide polymorphisms (SNPs) including 10 nonsynonymous and 2 synonymous SNPs in Korean native goats. Significant differences in allele frequencies of PRNP codons 143 and 146 were found between scrapie-affected goats and Korean native goats (p < 0.01). By contrast, in PRNP codons 168, 211 and 222, there were no significant differences in the genotype and allele frequencies between scrapie-affected animals and Korean native goats. To evaluate structural changes caused by nonsynonymous SNPs, PolyPhen-2, PROVEAN and AMYCO analyses were performed. PolyPhen-2 predicted “possibly damaging” for W102G and R154H, “probably damaging” for G127S. AMYCO predicted relatively low for amyloid propensity of prion protein in Korean native black goats. This is the first study to evaluate the scrapie sensitivity and the first in silico evaluation of nonsynonymous SNPs in Korean native black goats.
Highlights
Small ruminants, including sheep and goats are natural hosts of scrapie, and the progression of scrapie pathogenesis is strongly influenced by polymorphisms in the prion protein gene (PRNP)
Small ruminants, including sheep and goat, are natural hosts of scrapie belonging to the group of transmissible spongiform encephalopathies (TSEs), which includes bovine spongiform encephalopathy (BSE) in cattle, chronic wasting disease (CWD) in deer and elk, and kuru, fatal familial insomnia (FFI), Gerstmann-Sträussler-Scheinker syndrome (GSS) and Creutzfeldt-Jakob disease (CJD) in humans[1,2,3,4,5,6,7]
The sequenced open reading frame (ORF) in the Korean native black goats was 771 bp in length and homologous with the PRNP gene of Capra hircus registered in the GenBank website (Gene ID: EU870890.1)
Summary
Small ruminants, including sheep and goats are natural hosts of scrapie, and the progression of scrapie pathogenesis is strongly influenced by polymorphisms in the prion protein gene (PRNP). AMYCO predicted relatively low for amyloid propensity of prion protein in Korean native black goats This is the first study to evaluate the scrapie sensitivity and the first in silico evaluation of nonsynonymous SNPs in Korean native black goats. A number of PRNP polymorphisms such as V21A, L23P, G37V, G49S, W102G, T110N, T110P, G127S, L133Q, M137I, I142M, H143R, N146S, N146D, R151H, R154H, P168Q, R211Q, I218L, Q220H, Q222K and S240P have been identified in goats[3,9,34,35,36,37,38,39,40] Among these alleles, the heterozygosity at codons I142M, H143R, N146S, R211Q and Q222K confers decreased susceptibility to scrapie development in goats. The estimation of the susceptibility to scrapie has not been investigated in Korean native black goats far
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