OMIA:000944-9860 : Spongiform encephalopathy, susceptibility/resistance to in Cervus elaphus (red deer)

In other species: Mallard , chicken , Ring-necked pheasant , white-tufted-ear marmoset , macaques , crab-eating macaque , Rhesus monkey , dog , domestic ferret , domestic cat , puma , horse , pig , Arabian camel , deer , Eurasian elk , Western roe deer , Eastern wapiti , sika deer , Manchurian Wapiti , reindeer , black-tailed deer , white-tailed deer , American bison , taurine cattle , goat , mouflon , sheep , eland , greater kudu , gemsbok , rabbit , golden hamster , domestic guinea pig , domestic yak , chital , fallow deer , cheetah , raccoon dog , bighorn sheep , blue antelope , Arabian oryx , scimitar-horned oryx , nyala , Spanish ibex , water buffalo , Japanese quail , Pyrenean chamois , Iberian red deer , Bank vole , American mink

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 176640 (gene) , 245300 (trait)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: unknown

Considered a defect: yes

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). In ruminants the disease has been called bovine spongiform encephalopathy (BSE) in cattle, scrapie in sheep and goats and chronic wasting disease (CWD) in cervids.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:000944-9860: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2024 Hoar, B.R., Ernest, H.B., Johnson, L.N.L., LaCava, M.E.F., Sandidge, D.J., Gerow, K., Mousel, M.R., Galloway, N.L., Swain, W., Malmberg, J.L. :
Ecology and chronic wasting disease epidemiology shape prion protein gene variation in Rocky Mountain elk (Cervus elaphus nelsoni). J Wildl Dis , 2024. Pubmed reference: 38287919. DOI: 10.7589/JWD-D-23-00062.
Marín-Moreno, A., Benestad, S.L., Barrio, T., Pirisinu, L., Espinosa, J.C., Tran, L., Huor, A., Di Bari, M.A., Eraña, H., Maddison, B.C., D'Agostino, C., Fernández-Borges, N., Canoyra, S., Jerez-Garrido, N., Castilla, J., Spiropoulos, J., Bishop, K., Gough, K.C., Nonno, R., Våge, J., Andréoletti, O., Torres, J.M. :
Classical BSE dismissed as the cause of CWD in Norwegian red deer despite strain similarities between both prion agents. Vet Res 55:62, 2024. Pubmed reference: 38750594. DOI: 10.1186/s13567-024-01320-y.
2023 [No authors listed] :
Monitoring of chronic wasting disease (CWD) (IV). EFSA J 21:e07936, 2023. Pubmed reference: 37077299. DOI: 10.2903/j.efsa.2023.7936.
[No authors listed] :
The European Union summary report on surveillance for the presence of transmissible spongiform encephalopathies (TSE) in 2022. EFSA J 21:e08384, 2023. Pubmed reference: 38035139. DOI: 10.2903/j.efsa.2023.8384.
Harpaz, E., Vuong, T.T., Tran, L., Tranulis, M.A., Benestad, S.L., Ersdal, C. :
Inter- and intra-species conversion efficacies of Norwegian prion isolates estimated by serial protein misfolding cyclic amplification. Vet Res 54:84, 2023. Pubmed reference: 37773068. DOI: 10.1186/s13567-023-01220-7.
Mathiason, C.K. :
Large animal models for chronic wasting disease. Cell Tissue Res 392:21-31, 2023. Pubmed reference: 35113219. DOI: 10.1007/s00441-022-03590-4.
Pereira, J.C., Gonçalves-Anjo, N., Orge, L., Pires, M.A., Rocha, S., Figueira, L., Matos, A.C., Silva, J., Mendonça, P., Carvalho, P., Tavares, P., Lima, C., Alves, A., Esteves, A., Pinto, M.L., Pires, I., Gama, A., Sargo, R., Silva, F., Seixas, F., Vieira-Pinto, M., Bastos, E. :
Estimating sequence diversity of prion protein gene (PRNP) in Portuguese populations of two cervid species: red deer and fallow deer. Prion 17:75-81, 2023. Pubmed reference: 36945178. DOI: 10.1080/19336896.2023.2191540.
Spraker, T.R., Gidlewski, T., Powers, J.G., Nichols, T.A., Wild, M.A. :
Distribution of the misfolded isoform of the prion protein in peripheral tissues and spinal cord of Rocky Mountain elk (<i>Cervus elaphus nelsoni</i>) with naturally occurring chronic wasting disease. Vet Pathol :3009858231173467, 2023. Pubmed reference: 37199487. DOI: 10.1177/03009858231173467.
Tranulis, M.A., Tryland, M. :
The zoonotic potential of chronic wasting disease - A review. Foods 12:824, 2023. Pubmed reference: 36832899. DOI: 10.3390/foods12040824.
2022 Güere, M.E., Våge, J., Tharaldsen, H., Kvie, K.S., Bårdsen, B.J., Benestad, S.L., Vikøren, T., Madslien, K., Rolandsen, C.M., Tranulis, M.A., Røed, K.H. :
Chronic wasting disease in Norway-A survey of prion protein gene variation among cervids. Transbound Emerg Dis 69:e20-e31, 2022. Pubmed reference: 34346562. DOI: 10.1111/tbed.14258.
Roh, I.S., Kim, Y.C., Kim, H.J., Won, S.Y., Jeong, M.J., Hwang, J.Y., Kang, H.E., Sohn, H.J., Jeong, B.H. :
Polymorphisms of the prion-related protein gene are strongly associated with cervids' susceptibility to chronic wasting disease. Vet Rec 190:e940, 2022. Pubmed reference: 34562285. DOI: 10.1002/vetr.940.
2021 Gallardo, M.J., Delgado, F.O. :
Animal prion diseases: A review of intraspecies transmission. Open Vet J 11:707-723, 2021. Pubmed reference: 35070868. DOI: 10.5455/OVJ.2021.v11.i4.23.
Tranulis, M.A., Gavier-Widén, D., Våge, J., Nöremark, M., Korpenfelt, S.L., Hautaniemi, M., Pirisinu, L., Nonno, R., Benestad, S.L. :
Chronic wasting disease in Europe: new strains on the horizon. Acta Vet Scand 63:48, 2021. Pubmed reference: 34823556. DOI: 10.1186/s13028-021-00606-x.

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  • Created by Imke Tammen2 on 08 Aug 2021