OMIA 000944-9925 : Spongiform encephalopathy in Capra hircus

In other species: domestic cat , cattle , pig , sheep , American mink , golden hamster , blue antelope , white-tufted-ear marmoset , eland , domestic ferret , greater kudu , Arabian oryx , , puma , Eastern wapiti , cheetah , chicken , crab-eating macaque , Rhesus monkey , macaques , black-tailed deer , , rabbit , dog , water buffalo , , Manchurian Wapiti , deer , domestic guinea pig , , Western roe deer , fallow deer , , , horse

Possibly relevant human trait(s) and/or gene(s) (MIM number): 176640

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1996

Cross-species summary: Spongiform encephalopathies are a class of fatal neurological diseases. Clinical signs are characteristic of a progressive degeneration of the central nervous system; they include pruritis, abnormalities of gait and recumbency. Death is inevitable. On post-mortem, brain histopathology shows a characteristic spongy appearance. The infectious agent is a modified form of a protein encoded by a gene in the host. The name given to this infectious particle is prion. The host gene is called the prion protein (PrP) gene, which is a normal part of the genome of mammals and chickens. Its polypeptide product, called cellular PrP(superscript C), is a naturally-occurring protein attached to the outer surface of neurones and some other cells. PrP(superscript C) appears to play a role in maintaining the Purkinje cells of the cerebellum, which are essential for balance and muscular function. The infectious agent, called scrapie PrP(superscript Sc), is a modifed form of PrP(superscript C), where the modifications involve glycosylation and the creation of intra-strand di-sulphide bonds. It is important to realise that these modifications involve no change in amino acid sequence. When PrP(superscript Sc) molecules enter a previously uninfected host, they convert the naturally occurring PrP(superscript C) molecules, produced by the host gene, into infectious PrP(superscript Sc) particles, which ultimately cause clinical signs in that animal, and which can spread to other animals, both horizontally (by infection) and vertically (by maternal transmission).

Species-specific name: Scrapie

Molecular basis: Goldmann et al. (1996) reported a goat PRNP variant that is "identical to the most common sheep PrP protein variant (Ala136-Arg154-Gln171). The dimorphism at codon 142 (Ile --> Met) appeared to be associated with differing disease incubation periods in goats experimentally infected with isolates of bovine spongiform encephalopathy, sheep scrapie CH1641 or sheep-passaged ME7 scrapie."

Vaccari et al. (2006) reported an "allelic variant encoding lysine at position 222 could be a valuable candidate to select in the framework of appropriate breeding programmes for scrapie resistance in goats."

Papasavva-Stylianou et al. (2007) reported "novel amino acid polymorphisms were detected at [codon] 146 (N-->S or D) . . . The two novel polymorphisms at codon 146 were found only in the healthy control and scrapie-negative goats. By comparison, none of the scrapie-affected goats encoded these polymorphisms."

Genetic testing: Sacchi et al. (2018): "The European Union has implemented breeding programmes to increase scrapie resistance in sheep. A similar approach can be applied also in goats since the K222 allele provides a level of resistance equivalent to that of ARR in sheep. The European Food Safety Authority stated that breeding for resistance could be offered as an option for Member States to control classical scrapie in goats."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PRNP prion protein Capra hircus 13 NC_030820.1 (46453052..46473740) PRNP Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Spongiform encephalopathy (scrapie) PRNP missense p.G127S 2011 22040234
Spongiform encephalopathy (scrapie) PRNP missense p.H154R 2009 19218225
Spongiform encephalopathy (scrapie) PRNP missense p.I142M 1996 8922485
Spongiform encephalopathy (scrapie) PRNP missense p.N146D 2007 16314132
Spongiform encephalopathy (scrapie) PRNP missense p.N146S 2007 16314132
Spongiform encephalopathy (scrapie) PRNP missense p.Q211R 2009 19218225
Spongiform encephalopathy (scrapie) PRNP missense p.Q222K 2006 16603543

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2018 Cinar, M.U., Schneider, D.A., Waldron, D.F., O'Rourke, K.I., White, S.N. :
Goats singly heterozygous for PRNP S146 or K222 orally inoculated with classical scrapie at birth show no disease at ages well beyond 6 years. Vet J 233:19-24, 2018. Pubmed reference: 29486874. DOI: 10.1016/j.tvjl.2017.12.019.
Greenlee, J.J. :
Review: Update on Classical and Atypical Scrapie in Sheep and Goats. Vet Pathol :300985818794247, 2018. Pubmed reference: 30200819. DOI: 10.1177/0300985818794247.
Jeong, M.J., Kim, Y.C., Jeong, B.H. :
Prion-like protein gene (PRND) polymorphisms associated with scrapie susceptibility in Korean native black goats. PLoS One 13:e0206209, 2018. Pubmed reference: 30359416. DOI: 10.1371/journal.pone.0206209.
Sacchi, P., Rasero, R., Ru, G., Aiassa, E., Colussi, S., Ingravalle, F., Peletto, S., Perrotta, M.G., Sartore, S., Soglia, D., Acutis, P. :
Predicting the impact of selection for scrapie resistance on PRNP genotype frequencies in goats. Vet Res 49:26, 2018. Pubmed reference: 29510738. DOI: 10.1186/s13567-018-0518-x.
2017 Meydan, H., Pehlivan, E., Özkan, M.M., Yildiz, M.A., Goldmann, W. :
Prion protein gene polymorphisms in Turkish native goat breeds. J Genet 96:299-305, 2017. Pubmed reference: 28674229.
2016 Aguilar-Calvo, P., Espinosa, J.C., Andréoletti, O., González, L., Orge, L., Juste, R., Torres, J.M. :
Goat K222-PrP(C) polymorphic variant does not provide resistance to atypical scrapie in transgenic mice. Vet Res 47:96, 2016. Pubmed reference: 27659200. DOI: 10.1186/s13567-016-0380-7.
Curcio, L., Sebastiani, C., Di Lorenzo, P., Lasagna, E., Biagetti, M. :
Review: A review on classical and atypical scrapie in caprine: Prion protein gene polymorphisms and their role in the disease. Animal 10:1585-93, 2016. Pubmed reference: 27109462. DOI: 10.1017/S1751731116000653.
Georgiadou, S., Ortiz-Pelaez, A., Simmons, M.M., Windl, O., Dawson, M., Neocleous, P., Papasavva-Stylianou, P. :
Goats with aspartic acid or serine at codon 146 of the PRNP gene remain scrapie-negative after lifetime exposure in affected herds in Cyprus. Epidemiol Infect :1-3, 2016. Pubmed reference: 27751198. DOI: 10.1017/S0950268816002272.
Kanata, E., Arsenakis, M., Sklaviadis, T. :
Caprine PrP variants harboring Asp-146, His-154 and Gln-211 alleles display reduced convertibility upon interaction with pathogenic murine prion protein in scrapie infected cells. Prion :0, 2016. Pubmed reference: 27537339. DOI: 10.1080/19336896.2016.1199312.
Konold, T., Thorne, L., Simmons, H.A., Hawkins, S.A., Simmons, M.M., González, L. :
Evidence of scrapie transmission to sheep via goat milk. BMC Vet Res 12:208, 2016. Pubmed reference: 27640200. DOI: 10.1186/s12917-016-0807-4.
Niedermeyer, S., Eiden, M., Toumazos, P., Papasavva-Stylianou, P., Ioannou, I., Sklaviadis, T., Panagiotidis, C., Langeveld, J., Bossers, A., Kuczius, T., Kaatz, M., Groschup, M.H., Fast, C. :
Genetic, histochemical and biochemical studies on goat TSE cases from Cyprus. Vet Res 47:99, 2016. Pubmed reference: 27716411. DOI: 10.1186/s13567-016-0379-0.
Windig, J.J., Hoving, R.A., Priem, J., Bossers, A., van Keulen, L.J., Langeveld, J.P. :
Variation in the prion protein sequence in Dutch goat breeds. J Anim Breed Genet 133:366-74, 2016. Pubmed reference: 26991480. DOI: 10.1111/jbg.12211.
2015 Dassanayake, R.P., White, S.N., Madsen-Bouterse, S.A., Schneider, D.A., O'Rourke, K.I. :
Role of the PRNP S127 allele in experimental infection of goats with classical caprine scrapie. Anim Genet 46:341, 2015. Pubmed reference: 25917307. DOI: 10.1111/age.12291.
Greenlee, J.J., Greenlee, M.H. :
The transmissible spongiform encephalopathies of livestock. ILAR J 56:7-25, 2015. Pubmed reference: 25991695. DOI: 10.1093/ilar/ilv008.
2013 Acquatella-Tran Van Ba, I., Imberdis, T., Perrier, V. :
From Prion Diseases to Prion-Like Propagation Mechanisms of Neurodegenerative Diseases. Int J Cell Biol 2013:975832, 2013. Pubmed reference: 24222767. DOI: 10.1155/2013/975832.
Acín, C., Martín-Burriel, I., Monleón, E., Lyahyai, J., Pitarch, J.L., Serrano, C., Monzón, M., Zaragoza, P., Badiola, J.J. :
Prion protein gene variability in Spanish goats. Inference through susceptibility to classical scrapie strains and pathogenic distribution of peripheral PrP(sc.). PLoS One 8:e61118, 2013. Pubmed reference: 23580248. DOI: 10.1371/journal.pone.0061118.
Corbière, F., Perrin-Chauvineau, C., Lacroux, C., Costes, P., Thomas, M., Brémaud, I., Martin, S., Lugan, S., Chartier, C., Schelcher, F., Barillet, F., Andreoletti, O. :
PrP-associated resistance to scrapie in five highly infected goat herds. J Gen Virol 94:241-5, 2013. Pubmed reference: 23100359. DOI: 10.1099/vir.0.047225-0.
2012 Acutis, P.L., Martucci, F., D'Angelo, A., Peletto, S., Colussi, S., Maurella, C., Porcario, C., Iulini, B., Mazza, M., Dell'atti, L., Zuccon, F., Corona, C., Martinelli, N., Casalone, C., Caramelli, M., Lombardi, G. :
Resistance to classical scrapie in experimentally challenged goats carrying mutation K222 of the prion protein gene. Vet Res 43:8, 2012. Pubmed reference: 22296670. DOI: 10.1186/1297-9716-43-8.
Peletto, S., Bertolini, S., Maniaci, M.G., Colussi, S., Modesto, P., Biolatti, C., Bertuzzi, S., Caramelli, M., Maurella, C., Acutis, P.L. :
Association of an indel polymorphism in the 3'UTR of the caprine SPRN gene with scrapie positivity in the central nervous system. J Gen Virol 93:1620-3, 2012. Pubmed reference: 22492914. DOI: 10.1099/vir.0.041400-0.
2011 Goldmann, W., Ryan, K., Stewart, P., Parnham, D., Xicohtencatl, R., Fernandez, N., Saunders, G., Windl, O., González, L., Bossers, A., Foster, J. :
Caprine prion gene polymorphisms are associated with decreased incidence of classical scrapie in goat herds in the United Kingdom. Vet Res 42:110, 2011. Pubmed reference: 22040234. DOI: 10.1186/1297-9716-42-110.
2009 Barillet, F., Mariat, D., Amigues, Y., Faugeras, R., Caillat, H., Moazami-Goudarzi, K., Rupp, R., Babilliot, J.M., Lacroux, C., Lugan, S., Schelcher, F., Chartier, C., Corbière, F., Andréoletti, O., Perrin-Chauvineau, C. :
Identification of seven haplotypes of the caprine PrP gene at codons 127, 142, 154, 211, 222 and 240 in French Alpine and Saanen breeds and their association with classical scrapie. J Gen Virol 90:769-76, 2009. Pubmed reference: 19218225. DOI: 10.1099/vir.0.006114-0.
Vaccari, G., Panagiotidis, C.H., Acin, C., Peletto, S., Barillet, F., Acutis, P., Bossers, A., Langeveld, J., van Keulen, L., Sklaviadis, T., Badiola, J.J., Andreéoletti, O., Groschup, M.H., Agrimi, U., Foster, J., Goldmann, W. :
State-of-the-art review of goat TSE in the European Union, with special emphasis on PRNP genetics and epidemiology. Vet Res 40:48, 2009. Pubmed reference: 19505422. DOI: 10.1051/vetres/2009031.
2007 Papasavva-Stylianou, P., Kleanthous, M., Toumazos, P., Mavrikiou, P., Loucaides, P. :
Novel polymorphisms at codons 146 and 151 in the prion protein gene of Cyprus goats, and their association with natural scrapie. Vet J 173:459-62, 2007. Pubmed reference: 16314132. DOI: 10.1016/j.tvjl.2005.09.013.
2006 Acutis, P.L., Bossers, A., Priem, J., Riina, M.V., Peletto, S., Mazza, M., Casalone, C., Forloni, G., Ru, G., Caramelli, M. :
Identification of prion protein gene polymorphisms in goats from Italian scrapie outbreaks. J Gen Virol 87:1029-33, 2006. Pubmed reference: 16528054. DOI: 10.1099/vir.0.81440-0.
Doherr, MG. :
Brief review on the epidemiology of transmissible spongiform encephalopathies (TSE). Vaccine :, 2006. Pubmed reference: 17126962. DOI: 10.1016/j.vaccine.2006.10.059.
Vaccari, G., Di Bari, MA., Morelli, L., Nonno, R., Chiappini, B., Antonucci, G., Marcon, S., Esposito, E., Fazzi, P., Palazzini, N., Troiano, P., Petrella, A., Di Guardo, G., Agrimi, U. :
Identification of an allelic variant of the goat PrP gene associated with resistance to scrapie. J Gen Virol 87:1395-402, 2006. Pubmed reference: 16603543. DOI: 10.1099/vir.0.81485-0.
2005 Eloit, M., Adjou, K., Coulpier, M., Fontaine, JJ., Hamel, R., Lilin, T., Messiaen, S., Andreoletti, O., Baron, T., Bencsik, A., Biacabe, AG., Beringue, V., Laude, H., Le Dur, A., Vilotte, JL., Comoy, E., Deslys, JP., Grassi, J., Simon, S., Lantier, F., Sarradin, P. :
BSE agent signatures in a goat. Vet Rec 156:523-4, 2005. Pubmed reference: 15833975.
Kurosaki, Y., Ishiguro, N., Horiuchi, M., Shinagawa, M. :
Polymorphisms of caprine PrP gene detected in Japan. J Vet Med Sci 67:321-3, 2005. Pubmed reference: 15805738.
de Groot, SJ. :
[European Union decides to expand TSE testing in goats] Tijdschr Diergeneeskd 130:151, 2005. Pubmed reference: 15773766.
2002 Billinis, C., Panagiotidis, C.H., Psychas, V., Argyroudis, S., Nicolaou, A., Leontides, S., Papadopoulos, O., Sklaviadis, T. :
Prion protein gene polymorphisms in natural goat scrapie Journal of General Virology 83:713-721, 2002. Pubmed reference: 11842266.
Heim, D., Maurer, E., Doherr, M.G. :
Transmissible spongiform encephalopathies in sheep and goats Schweizer Archiv fur Tierheilkunde 144:675-683, 2002. Pubmed reference: 12585208.
2001 Capucchio, M.T., Guarda, F., Pozzato, N., Coppolino, S., Caracappa, S., Di, Marco, V. :
Clinical signs and diagnosis of scrapie in Italy: A comparative study in sheep and goats Zentralblatt fur Veterinarmedizin - Reihe A 48:23-31, 2001.
Foster, J.D., Parnham, D., Chong, A., Goldmann, W., Hunter, N. :
Clinical signs, histopathology and genetics of experimental transmission of BSE and natural scrapie to sheep and goats Veterinary Record 148:165-171, 2001. Pubmed reference: 11258721.
Foster, J., Goldmann, W., Parnham, D., Chong, A., Hunter, N. :
Partial dissociation of PrPSc deposition and vacuolation in the brains of scrapie and BSE experimentally affected goats Journal of General Virology 82:267-273, 2001. Pubmed reference: 11125179.
2000 Hunter, N., Goldmann, W., Marshall, E., O'Neill, G. :
Sheep and goats: natural and experimental TSEs and factors influencing incidence of disease Archives of Virology :181-188, 2000.
1999 Agrimi, U., Ru, G., Cardone, F., Pocchiari, M., Caramelli, M. :
Epidemic of transmissible spongiform encephalopathy in sheep and goats in Italy Lancet 353:560-561, 1999. Pubmed reference: 10028993. DOI: 10.1016/S0140-6736(98)04545-0.
1998 Andrews, A.H. :
Natural occurrence of scrapie in goats in italy Veterinary Record 143:512, 1998. Pubmed reference: 9836407.
Capucchio, M.T., Guarda, F., Isaia, M.C., Caracappa, S., Dimarco, V. :
Natural occurrence of scrapie in goats in italy Veterinary Record 143:452-453, 1998. Pubmed reference: 9823611.
Goldmann, W., Chong, A., Foster, J., Hope, J., Hunter, N. :
The shortest known prion protein gene allele occurs in goats, has only three octapeptide repeats and is non-pathogenic Journal of General Virology 79:3173-3176, 1998. Pubmed reference: 9880037.
Iannuzzi, L., Palomba, R., Dimeo, G.P., Perucatti, A., Ferrara, L. :
Comparative FISH-mapping of the prion protein gene (PrnP) on cattle, river buffalo, sheep and goat chromosomes Cytogenetics & Cell Genetics 81:202-204, 1998.
1997 Goldmann, W., Martin, T., Foster, J., Hughes, S., Smith, G., Hughes, K., Dawson, M., Hunter, N. :
Novel polymorphisms in the caprine PrP gene - a codon 142 mutation associated with scrapie incubation period (vol 77, pg 2885, 1996) Journal of General Virology 78:697, 1997.
1996 Goldmann, W., Martin, T., Foster, J., Hughes, S., Smith, G., Hughes, K., Dawson, M., Hunter, N. :
Novel polymorphisms in the caprine PrP gene - a codon 142 mutation associated with scrapie incubation period Journal of General Virology 77:2885-2891, 1996. Pubmed reference: 8922485.
Schmerr, M.J., Goodwin, K.R., Cutlip, R.C., Jenny, A.L. :
Improvements in a competition assay to detect scrapie prion protein by capillary electrophoresis Journal of Chromatography B: Biomedical Applications 681:29-35, 1996.
1994 Groschup, M.H., Langeveld, J., Pfaff, E. :
The major species specific epitope in prion proteins of ruminants Archives of Virology 136:423-431, 1994. Pubmed reference: 7518226.
1993 Foster, J.D., Hope, J., Fraser, H. :
Transmission of Bovine Spongiform Encephalopathy to Sheep and Goats Veterinary Record 133:339-341, 1993. Pubmed reference: 8236676.
1992 Andrews, A.H., Laven, R., Matthews, J.G. :
Clinical Observations on 4 Cases of Scrapie in Goats Veterinary Record 130:101, 1992. Pubmed reference: 1557871.
Hunter, N., Speedy, A.W. :
Scrapie in Sheep and Goats Progress in Sheep and Goat Research :131-151, 1992.
Wood, J.L.N., Done, S.H. :
Natural Scrapie in Goats - Neuropathology Veterinary Record 131:93-96, 1992. Pubmed reference: 1523800.
Wood, J.N.L., Done, S.H., Pritchard, G.C., Wooldridge, M.J.A. :
Natural Scrapie in Goats - Case Histories and Clinical Signs Veterinary Record 131:66-68, 1992. Pubmed reference: 1529502.
1991 Perrin, G.G., Perrin, G.J., Benoit, C. :
Detection of Scrapie-Associated Fibrils in Scrapie in Goats Veterinary Record 129:432, 1991. Pubmed reference: 1776227.
1990 Cawthorne, R.J.G. :
Scrapie in Sheep and Goats Veterinary Record 127:603, 1990. Pubmed reference: 2075694.
1989 Toumazos, P., Alley, M.R. :
Scrapie in Goats in Cyprus New Zealand Veterinary Journal 37:160-162, 1989.
1964 Pattison, I.H. :
The spread of scrapie by contact between affected and healthy sheep, goats or mice Veterinary Record 76:333-336, 1964.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 23 Mar 2018
  • Changed by Frank Nicholas on 26 Mar 2018