OMIA:000944-9615 : Spongiform encephalopathy, susceptibility/resistance to in Canis lupus familiaris (dog)

In other species: Mallard , chicken , Ring-necked pheasant , white-tufted-ear marmoset , macaques , crab-eating macaque , Rhesus monkey , domestic ferret , domestic cat , puma , horse , pig , Arabian camel , deer , Eurasian elk , Western roe deer , red 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: unknown

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. (2020). OMIA:000944-9615: 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 Adeola, A.C., Bello, S.F., Abdussamad, A.M., Adedokun, R.A.M., Olaogun, S.C., Abdullahi, N., Mark, A.I., Onoja, A.B., Sanke, O.J., Mangbon, G.F., Ibrahim, J., Dawuda, P.M., Salako, A.E., Kdidi, S., Yahyaoui, M.H. :
Single nucleotide polymorphisms (SNPs) in the open reading frame (ORF) of prion protein gene (PRNP) in Nigerian livestock species. BMC Genomics 25:177, 2024. Pubmed reference: 38355406. DOI: 10.1186/s12864-024-10070-2.
2023 Li, X.N., Gao, Y., Li, Y., Yin, J.X., Yi, C.W., Yuan, H.Y., Huang, J.J., Wang, L.Q., Chen, J., Liang, Y. :
Arg177 and Asp159 from dog prion protein slow liquid-liquid phase separation and inhibit amyloid formation of human prion protein. J Biol Chem 299:105329, 2023. Pubmed reference: 37805139. DOI: 10.1016/j.jbc.2023.105329.
2022 Kim, Y.C., Kim, H.H., Kim, A.D., Jeong, B.H. :
Novel insertion/deletion polymorphisms and genetic features of the shadow of prion protein gene (SPRN) in dogs, a prion-resistant animal. Front Vet Sci 9:942289, 2022. Pubmed reference: 35982928. DOI: 10.3389/fvets.2022.942289.
2021 Orge, L., Lima, C., Machado, C., Tavares, P., Mendonça, P., Carvalho, P., Silva, J., Pinto, M.L., Bastos, E., Pereira, J.C., Gonçalves-Anjo, N., Gama, A., Esteves, A., Alves, A., Matos, A.C., Seixas, F., Silva, F., Pires, I., Figueira, L., Vieira-Pinto, M., Sargo, R., Pires, M.D.A. :
Neuropathology of animal prion diseases. Biomolecules 11:466, 2021. Pubmed reference: 33801117. DOI: 10.3390/biom11030466.
Zhang, J. :
Molecular dynamics studies of dog prion protein wild-type and its D159N mutant. J Biomol Struct Dyn 39:4234-4242, 2021. Pubmed reference: 32496928. DOI: 10.1080/07391102.2020.1776155.
2020 Kim, D.J., Kim, Y.C., Kim, A.D., Jeong, B.H. :
Novel polymorphisms and genetic characteristics of the prion protein gene (PRNP) in dogs-a resistant animal of prion disease. Int J Mol Sci 21:4160, 2020. Pubmed reference: 32532135. DOI: 10.3390/ijms21114160.
Myers, R., Cembran, A., Fernandez-Funez, P. :
Insight from animals resistant to prion diseases: Deciphering the genotype - morphotype - phenotype code for the prion protein. Front Cell Neurosci 14:254, 2020. Pubmed reference: 33013324. DOI: 10.3389/fncel.2020.00254.
2019 Won, S.Y., Kim, Y.C., Kim, K., Kim, A.D., Jeong, B.H. :
The first report of polymorphisms and genetic features of the prion-like protein gene (PRND) in a prion disease-resistant animal, dog. Int J Mol Sci 20:1404, 2019. Pubmed reference: 30897750. DOI: 10.3390/ijms20061404.
2018 Sanchez-Garcia, J., Fernandez-Funez, P. :
D159 and S167 are protective residues in the prion protein from dog and horse, two prion-resistant animals. Neurobiol Dis 119:1-12, 2018. Pubmed reference: 30010001. DOI: 10.1016/j.nbd.2018.07.011.
2012 Stewart, P., Campbell, L., Skogtvedt, S., Griffin, K.A., Arnemo, J.M., Tryland, M., Girling, S., Miller, M.W., Tranulis, M.A., Goldmann, W. :
Genetic predictions of prion disease susceptibility in carnivore species based on variability of the prion gene coding region. PLoS One 7:e50623, 2012. Pubmed reference: 23236380. DOI: 10.1371/journal.pone.0050623.
2003 Nitzan-Kaluski, D., Leventhal, A. :
Bovine spongiform encephalopathy in Israel: implications for human health Israel Medical Association Journal: Imaj 5:662-5, 2003.
2002 De Bosschere, H., Bos, M., Ducatelle, R., Bhatti, S., Van Ham, L. :
Spongiform degeneration of the white matter in the central nervous system of Australian cattle dog littermates Vlaams Diergeneeskundig Tijdschrift 71:145-148, 2002.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Tosso Leeb on 03 Dec 2015
  • Changed by Frank Nicholas on 15 May 2020