Genetic variability of the PrP gene in a goat herd in the UK

Goldmann, Wilfred; Perucchini, Matteo; Smith, Allister; Hunter, Nora

doi:10.1136/vr.155.6.177

Cited by 30 publications

(18 citation statements)

References 9 publications

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“…Polymorphism at codon 142 has shown a certain protective effect against scrapie in goats [12]; however, 2 out of 13 scrapie-affected goats in this study displayed the I142M genotype, suggesting that methionine homozygous carriers are not absolutely protected against the disease. The mutation observed at codon 211 has been previously described in goats [46], [47], in sheep [48] and even in sheep affected with classical scrapie [33]. This mutation corresponds to the human codon 208 (R→H) (see Table 3), which is associated with Creutzfeldt-Jakob disease in homozygous 129MM patients [49].…”

Section: Discussionmentioning

confidence: 74%

Prion Protein Gene Variability in Spanish Goats. Inference through Susceptibility to Classical Scrapie Strains and Pathogenic Distribution of Peripheral PrPsc

et al. 2013

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Classical scrapie is a neurological disorder of the central nervous system (CNS) characterized by the accumulation of an abnormal, partially protease resistant prion protein (PrPsc) in the CNS and in some peripheral tissues in domestic small ruminants. Whereas the pathological changes and genetic susceptibility of ovine scrapie are well known, caprine scrapie has been less well studied. We report here a pathological study of 13 scrapie-affected goats diagnosed in Spain during the last 9 years. We used immunohistochemical and biochemical techniques to discriminate between classical and atypical scrapie and bovine spongiform encephalopathy (BSE). All the animals displayed PrPsc distribution patterns and western blot characteristics compatible with classical scrapie. In addition, we determined the complete open reading frame sequence of the PRNP in these scrapie-affected animals. The polymorphisms observed were compared with those of the herd mates (n = 665) and with the frequencies of healthy herds (n = 581) of native Spanish goats (Retinta, Pirenaica and Moncaina) and other worldwide breeds reared in Spain (Saanen, Alpine and crossbreed). In total, sixteen polymorphic sites were identified, including the known amino acid substitutions at codons G37V, G127S, M137I, I142M, H143R, R151H, R154H, R211Q, Q222K, G232W, and P240S, and new polymorphisms at codons G74D, M112T, R139S, L141F and Q215R. In addition, the known 42, 138 and 179 silent mutations were detected, and one new one is reported at codon 122. The genetic differences observed in the population studied have been attributed to breed and most of the novel polymorphic codons show frequencies lower than 5%. This work provides the first basis of polymorphic distribution of PRNP in native and worldwide goat breeds reared in Spain.

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Section: Discussionmentioning

confidence: 74%

Prion Protein Gene Variability in Spanish Goats. Inference through Susceptibility to Classical Scrapie Strains and Pathogenic Distribution of Peripheral PrPsc

et al. 2013

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“…The described amino acid substitutions in caprine PRNP are: V21A, L23P, G37V, G49S, W102G, T110N, T110P, G127S, L133Q, M137I, I142M, H143R, N146S, N146D, R151H, R154H, P168Q, R211Q, I218L, Q220H, Q222K and S240P (Goldmann et al. 1996, 1998, 2004; Wopfner et al.…”

Section: Introductionmentioning

confidence: 99%

Genetic variability of the PRNP gene in goat breeds from Northern and Southern Italy

et al. 2008

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Aims: To determine the variability of the prion protein gene (PRNP) in goats from Northern and Southern Italy. Methods and results: Genomic DNA isolated from goat blood was polymerase chain reaction (PCR)‐amplified for the coding region of the PRNP gene and then sequenced. In total, 13 polymorphic sites were identified: G37V, T110P, G127S, M137I, I142M, I142T, H143R, R154H, P168Q, T194P, R211Q, Q222K and S240P (substitutions I142T and T194P are novel) giving rise to 14 haplotypes. Clear frequency differences between Northern and Southern breeds were found and confirmed by genetic distance analysis. Conclusions: Differences in allele distribution were found between Northern and Southern goats, in particular regarding the M142 and K222 alleles, possibly associated to scrapie resistance; philogeographical analysis supported the idea that Northern and Southern breeds may be considered as separate clusters. Significance and impact of the study: In Italy only limited studies have been carried out on caprine PRNP genotype distribution; this study is important to fill this lack of information. Moreover the finding of significant differences among allele distributions in Northern and Southern goats, especially if involved in modulating resistance/susceptibility, need to be carefully considered for the feasibility of selection plans for resistance to scrapie.

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“…Although codon 222 is proposed to enhance resistance to scrapie in goat [7,8], no strong association with TSE susceptibility has been discovered yet in goat, despite its high evolutionary relationship with sheep and its remarkable high degree of variation in the PRNP coding sequence (26 missense and 11 silent mutations so far; Fig. 1) [7][8][9][10][11][12][13][14][15][16][17][18][19][20]. Because not only PRNP coding mutations can influence TSE susceptibility, but also PRNP regulatory mutations, as shown in human and cattle studies [21,22], the complete goat PRNP gene was sequenced and analyzed to provide a genomic foundation for the detection of possible PRNP regulatory mutations in goat.…”

Section: Introductionmentioning

confidence: 99%

Complete genomic sequence of the goat prion protein gene (PRNP)

Poucke¹,

Willemarck²,

Hugot³

et al. 2008

Virus Genes

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Prion protein genetics plays a central role in transmissible spongiform encephalopathies, a disease occurring in human and animals. Here we report a 27-kb genomic sequence containing the goat PRNP gene. It shows, both in structure and content, a remarkable similarity with its sheep ortholog and can serve as a basis for future (comparative) studies with reference to the regulation of PRNP gene expression and the search for genetic tools to prevent/control/eradicate (goat) TSE.

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Genetic variability of the PrP gene in a goat herd in the UK

Cited by 30 publications

References 9 publications

Prion Protein Gene Variability in Spanish Goats. Inference through Susceptibility to Classical Scrapie Strains and Pathogenic Distribution of Peripheral PrPsc

Prion Protein Gene Variability in Spanish Goats. Inference through Susceptibility to Classical Scrapie Strains and Pathogenic Distribution of Peripheral PrPsc

Genetic variability of the PRNP gene in goat breeds from Northern and Southern Italy

Complete genomic sequence of the goat prion protein gene (PRNP)

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