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A cross-sectional study of PRNP gene in two native Sicilian goat populations in Italy: a relation between prion gene polymorphisms and scrapie incidence

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Abstract

Transmissible spongiform encephalopathies (TSEs) are a group of neurodegenerative diseases affecting humans and animals, and scrapie in small ruminants is considered the archetype of TSEs. Derivata di Siria is a native dairy goat of Sicily (south Italy), which is related to Syrian goat breeds. Scrapie disease is considered endemic in Sicily since 1997, following the administration of an infected vaccine. Derivata di Siria goats were involved in six of 66 scrapie-infected flocks in Sicily. Prion protein gene (PRNP) analysis revealed that none of the scrapie cases carried the p.Gln222Lys variant. Sequencing of PRNP in this goat population showed a high frequency (15%) of p.Gln222Lys variant confirming its association with scrapie resistance. PRNP polymorphisms were also analysed in the population of Pantelleria, a small Sicilian Island, where scrapie has never been reported. The native goat breed ‘Pantesca’ was maintained up to almost 80 years and the size of the sheep population on this island has historically been very low. Currently, a crossbreed goat population of 253 heads is present on the island. PRNP genotyping of Pantelleria goats showed genetic variation, with low presence of wild-type goats and the lack of protective alleles. These data reinforce the association between PRNP polymorphisms in small ruminants and scrapie incidence.

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Acknowledgements

The authors are grateful to Sicilian farmers for their collaboration. This study was supported by EMIDA ERA-NET project: ‘GOAT-TSE-FREE’, by Ricerca Finalizzata 2010 Project Code: RF-2010-2318525 to MV and RC IZSSi 16/11 to SA from Italian Ministry of Health. WG supported by the Biotechnology and Biological Sciences Research Council (Strategic Programme Grant BB/J004332/1 to the Roslin Institute).

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Authors and Affiliations

  1. Istituto Zooprofilattico Sperimentale of Sicily, Adelmo Mirri, via Gino Marinuzzi 3, 90129 , Palermo, Italy

    Sergio Migliore, Stefano Agnello, Vincenzo Di Marco Lo Presti & Maria Vitale

  2. Public Veterinary Service, ASP 9 Trapani, 91017 , Pantelleria, Italy

    Salvatore D’Avola

  3. The Roslin Institute, R(D)SVS University of Edinburgh Easter Bush, Midlothian , EH259RG, Scotland, UK

    Wilfred Goldmann

Authors
  1. Sergio Migliore
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  2. Stefano Agnello
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  3. Salvatore D’Avola
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  4. Wilfred Goldmann
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  5. Vincenzo Di Marco Lo Presti
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  6. Maria Vitale
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Corresponding author

Correspondence to Maria Vitale.

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Corresponding editor: Silvia Garagna

[Migliore S., Agnello S., D’Avola S., Goldmann W., Di Marco Lo Presti V. and Vitale M. 2017 A cross-sectional study of PRNP gene in two native Sicilian goat populations in Italy: a relation between prion gene polymorphisms and scrapie incidence. J. Genet. 96, xx-xx]

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Migliore, S., Agnello, S., D’Avola, S. et al. A cross-sectional study of PRNP gene in two native Sicilian goat populations in Italy: a relation between prion gene polymorphisms and scrapie incidence. J Genet 96, 319–325 (2017). https://doi.org/10.1007/s12041-017-0776-9

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  • DOI: https://doi.org/10.1007/s12041-017-0776-9

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