Prion Protein Genotypes in Pakistani Goats

Babar, Masroor Ellahi; Nawaz, Muhammad Atif; Nasim, Adnan; Abdullah, Muhammad; Imran, Muhammad; Jabeen, R.; Chatha, Shahzad Ali Shahid; Haq, Ahsan Ul; Nawaz, Ahmad; Mustafa, Hafiz Saad Bin; Nadeem, Asif

doi:10.5713/ajas.2008.70493

Cited by 9 publications

(10 citation statements)

References 17 publications

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“…We investigated the caprine PRNP haplotypes of codons 136, 154 and 171 in Korean native goats. In addition, the PRNP haplotypes were compared with those previously reported in 4 countries, namely, Pakistan, China, Japan and France 33,43–45 . In all countries, the ARQ haplotype was distributed over 97% of goats.…”

Section: Resultsmentioning

confidence: 99%

Potential scrapie-associated polymorphisms of the prion protein gene (PRNP) in Korean native black goats

Kim

Won

et al. 2019

Sci Rep

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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.

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Section: Resultsmentioning

confidence: 99%

Potential scrapie-associated polymorphisms of the prion protein gene (PRNP) in Korean native black goats

Kim

Won

et al. 2019

Sci Rep

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“…This polymorphism has also been detected in other Pakistani goat breeds like Pak Angora, Teddy and Beetal [35]. Like sheep, the lower frequency of H143R may raise the scrapie risk in the studied goat breeds.…”

Section: Discussionmentioning

confidence: 51%

“…Amongst caprine PrP polymorphisms I142M, H143R, N146S/D, R154H, R211Q and Q222K associated with resistance to scrapie [ 13 - 18 ], only H143R was detected for the studied goats. This polymorphism has also been detected in other Pakistani goat breeds like Pak Angora, Teddy and Beetal [ 35 ]. Like sheep, the lower frequency of H143R may raise the scrapie risk in the studied goat breeds.…”

Section: Discussionmentioning

confidence: 58%

Detection of Four Novel Polymorphisms in PrP gene of Pakistani sheep (Damani and Hashtnagri) and goats (Kamori and Local Hairy) breeds

Hussain

Babar

Imran

et al. 2011

Virol J

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Scrapie is a fatal neurodegenerative disorder of sheep and goats caused by post-translational conformational change in the host-encoded prion protein (PrPC). Susceptibility or resistance to scrapie has been associated with the presence of polymorphisms in the prion protein (PrP) gene. In the present study, we analyzed the PrP gene sequence to determine the frequency of polymorphisms in 56 sheep (28 each from Damani and Hashtnagri breeds) and 56 goats (28 each from Kamori and Local Hairy breeds). A total of 7 amino acid polymorphisms were detected in the PrP gene for sheep and 4 for goats. These amino acid polymorphisms were combined in 13 alleles and 15 genotypes in sheep and 5 alleles and 6 genotypes in goats. The overall frequency of the most sheep scrapie-resistant polymorphism (Q171R) was calculated to be 0.107. The most scrapie-susceptible polymorphism (A136V) was not detected in any of the studied sheep. The overall frequency of scrapie-associated polymorphism (H143R) in goats was found to be 0.152. Along with already known amino acid polymorphisms, two novel polymorphisms were also detected for each of sheep (Q171N and T191I) and goats (G22C and P63L). However, the overall frequency of these polymorphisms was extremely low.

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“…While heterozygosity at PRNP codons protects humans against prion disease by inhibiting homologous protein-protein interactions (Geldermann et al, 2006;Palmer et al, 1991), alteration in the PRNP expression is also associated with the risk of occurring prion diseases (Bratosiewicz-Wasik et al, 2007;Concepcion and Padlan, 2005). Due to massive impact of PRNP on prion diseases, PRNP variation has extensively been studied both in animals (Babar et al, 2009(Babar et al, , 2008a(Babar et al, , 2008bGoldmann, 2008) and humans in whom M129V has been targeted by many epidemiological studies (Supplementary file 3). Homozygosity at M129V is a risk factor for human prion disease (Mead et al, 2009;Wadsworth et al, 2010;Zou et al, 2010).…”

Section: Discussionmentioning

confidence: 98%