Abstract

The first European cases of chronic wasting disease (CWD) in free-ranging reindeer and wild elk were confirmed in Norway in 2016 highlighting the urgent need to understand transmissible spongiform encephalopathies (TSEs) in the context of European deer species and the many individual populations throughout the European continent. The genetics of the prion protein gene (PRNP) are crucial in determining the relative susceptibility to TSEs. To establish PRNP gene sequence diversity for free-ranging ruminants in the Northeast of Spain, the open reading frame was sequenced in over 350 samples from five species: Iberian red deer (Cervus elaphus hispanicus), roe deer (Capreolus capreolus), fallow deer (Dama dama), Iberian wild goat (Capra pyrenaica hispanica) and Pyrenean chamois (Rupicapra p. pyrenaica). Three single nucleotide polymorphisms (SNPs) were found in red deer: a silent mutation at codon 136, and amino acid changes T98A and Q226E. Pyrenean chamois revealed a silent SNP at codon 38 and an allele with a single octapeptide-repeat deletion. No polymorphisms were found in roe deer, fallow deer and Iberian wild goat. This apparently low variability of the PRNP coding region sequences of four major species in Spain resembles previous findings for wild mammals, but implies that larger surveys will be necessary to find novel, low frequency PRNP gene alleles that may be utilized in CWD risk control.

Highlights

  • Transmissible spongiform encephalopathies (TSEs) are a group of fatal, neurodegenerative disorders characterised by the accumulation in the central nervous system of prion protein ­PrPSc, an abnormal isoform of the cellular protein ­PrPC [1, 2]

  • Deer prion protein gene (PRNP) The coding region of the PRNP gene from 209 Iberian red deer samples collected in North-East Spain showed three single-nucleotide polymorphisms (SNPs): a silent single nucleotide polymorphism (SNP) at position 408, and two polymorphisms at positions 292 and 776, resulting in amino acid changes in codons 98 and 226

  • The SNP at nucleotide position 408 is linked to the SNP at position 776, so that all haplotypes were either t408-a776(Q226) or c408-g776(E226); Tables 1 and 2 only show the amino acid changes. ­A98 was observed 61 times in linkage with ­Q226, and all A­ A98 homozygous genotypes were Q­ Q226 homozygous

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Summary

Introduction

Transmissible spongiform encephalopathies (TSEs) are a group of fatal, neurodegenerative disorders characterised by the accumulation in the central nervous system of prion protein ­PrPSc, an abnormal isoform of the cellular protein ­PrPC [1, 2]. TSEs can affect several mammalian species, but show a predominance in ruminants: scrapie in sheep and goats, bovine spongiform encephalopathy (BSE) in bovids and chronic wasting disease (CWD) in cervids. Scrapie is a widespread disease known for more than 250 years, which is present in almost all regions of the world [3], while BSE reached epidemic proportions in Europe in the 1990s due to the use of animal feedstuffs contaminated with prions [4]. Both TSEs affected livestock and exotic ruminants in zoological collections, but. Natural transmission of CWD to humans seems unlikely, several studies recommend establishing preventive measures and further research on the subject [14, 15]

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