|
KMID : 1025520090510060453
|
|
Journal of Animal Science and Technology
2009 Volume.51 No. 6 p.453 ~ p.458
|
|
|
Identification of Single Nucleotide Polymorphisms in PRNP Gene of Korean Native Goats. Md.
|
|
Md. Rashedul Hoque
Lee Jun-Heon
Yu Seong-Lan
Yeon Seong-Heum
|
|
|
Abstract
|
|
|
Prion protein(PRNP) is known to be a causative protein for transmissible spongiform encephalopathy(TSE), a disease occurring in human and animals. Previous results indicate that the genetic variability can affect the resistance and susceptibility of goat scrapie and can give the guideline for reducing the risk of this disease. Until now, 35 single nucleotide polymorphisms(SNPs) were identified in goat PRNP gene from many countries such as Great Britain, Italy, United States of America and Asian countries etc. In this study, SNPs in PRNP gene have been investigated to research the PRNP variations and their possible TSE risks in 60 Korean native goats. Based on the sequencing results, we identified four SNPs and three of those polymorphisms (G126A, C414T and C718T) were synonymous and the A428G polymorphism was non-synonymous which changes the amino acid histidine to arginine. Previously, all of these four SNPs were identified in Asian native goats. Specifically, five polymorphisms were identified in Asian native goats and two of them(G126A and C414T) were silent mutations, and the other SNPs(T304G, A428G and T718C) caused amino acid changes(W102G, H143R and S240P). Comparing with SNP results from other breeds, this study is an initial step to understand resistance and susceptibility of this disease in Korean native goats.
Prion protein(PRNP) is responsible for scrapie as a neurodegenerative disease affecting cattle, sheep and goats. The scrapie is also called as transmissible spongiform encephalopahies(TSEs). This illness in cattle is called bovine spongiform encephalopathy(BSE) and highly related to the human neurodegenerative disease, called Creutzfeldt-Jakob disease(CJD). Prions are infectious protein molecules that can be characterized by PrPsc accumulation in central nervous system(CNS) in all hosts‐encoded prion protein (PrPc) (Oesch et al., 1985; Prusiner and De Armond 1994; Prusiner, 1998) and in the lympho-reticular system (LRS) (Ikegami et al., 1991; Muramatsu et al., 1992). PrPsc is an infectious glycoprotein derived from cellular protease-sensitive isoform (PrPc) that is an encoded glycoprotein in the host genome by PRNP gene (Prusiner, 2004).
The genetic resistance or susceptibility to scrapie is highly associated with genotype(A136V, R154H and Q171R/H) to the host and infectious strain of PrPsc that results have the haplotypes reported as susceptible type(Ala-Arg-Gln) in sheep (Baylis and Goldmann, 2004). The effect of polymorphisms to scrapie has been associated with mutations in the coding region of the gene that is encoded by a single-copy autosomal gene(PRNP) (Prusiner, 1998). Amino acid polymorphism at codon 142 has been reported in UK goats to be associated with disease incubation period(Goldmann et al., 1996). Whereas, another study suggested that PRNP alleles are carrying arginine at codon 143 and histidine at codon 154 may offer some protective roles against scrapie in Greek goats (Billinis et al., 2002). Others suggested the polymorphisms at codons 142M and 143R, which were associated with the resistance to scrapie in Japanese goat (Kurosaki et al., 2005). However, polymorphisms located at codons 142, 143, 146, 154 and 222 were found to be associated with scrapie protective effect to prion disease and were reported for goats from the UK, Greece, Cyprus and Italy (Goldmann et al., 1996; Billinis et al., 2002; Acutis et al., 2006; Vaccari et al., 2006; Papasavva- Stylianou et al., 2007). Zhang et al. (2004) reported eight amino acid polymorphisms in Chinese goats, including few polymorphisms in the main breeds of indigenous Chinese goats of PRNP gene(Zhou et al., 2008). Twelve alleles were determined in goats from Italian scrapie outbreaks (Acutis et al., 2006) and also the genetic variability of the PRNP gene in Italian goats has been investigated (Acutis et al., 2008). Also, ten breeds in US(White et al., 2008), four breeds in Pakistan (Babar et al., 2009) and two breeds in Morocco (Serrano et al., 2009) have been investigated for the polymorphisms in PRNP gene and ten, five and ten SNPs were identified, respectively. Recently, Barillet et al. (2009) reported seven haplotypes of the caprine PRNP gene at codons 127, 142, 154, 211, 222 and 240 in two French goat breeds and their associations were investigated with classical scrapie. However, so far only five polymorphisms were identified in Asian native goats. More precisely, two polymorphisms(G126A and C414T) where the silent mutations, and the other three(T304G, A428G and T718C) caused amino acid changes(W102G, H143R and S240P) (Sasazaki et al., 2008).
Recently, the number of studies investigating the goat PRNP gene has increased due to animal and human health issues. Therefore the aim of this study was to investigate PRNP polymorphisms in Korean native goats in order to assess the susceptibility and resistance of the scrapie in this native species.
|
|
|
KEYWORD
|
|
|
Korean native goats, Prion protein(PRNP), Single nucleotide polymorphism(SNP), Transmissible spongiform encephalopathy(TSE)
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|
|