OMIA:000944-9874 : Spongiform encephalopathy, susceptibility/resistance to in Odocoileus virginianus (white-tailed 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 , red deer , Eastern wapiti , sika deer , Manchurian Wapiti , reindeer , black-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: yes

Considered a defect: yes

Key variant known: no

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.

Species-specific name: Chronic wasting disease; prion disease

Species-specific symbol: CWD

Markers: Haworth et al. (2021): A total of 631 Ontario deer samples were included in the PRNP genetic analysis .... Nineteen SNPs were detected after filtering ..., with eight being non-synonymous substitutions. Six of the detected variants in the PRNP gene have been linked to CWD susceptibility or clinical progression, these include nt60, nt153, nt285, nt286, nt555, and nt676."

Control: Haworth et al. (2021): "Targeted temporal monitoring of variation in PRNP across CWD-free regions could be a detection tool as our simulations suggest detectable shifts should occur with the arrival of the disease." Haley et al. (2021) "developed a selective breeding program for farmed white-tailed deer in a high-prevalence CWD-endemic area which focused on reducing frequencies of highly susceptible PRNP variants and introducing animals with less susceptible variants. . . . and early data support our project’s utility in reducing CWD prevalence."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PRNP Odocoileus virginianus NW_018342841.1 (2051792..2069710) PRNP Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:000944-9874: 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 Schwabenlander, M.D., Bartz, J.C., Carstensen, M., Fameli, A., Glaser, L., Larsen, R.J., Li, M., Shoemaker, R.L., Rowden, G., Stone, S., Walter, W.D., Wolf, T.M., Larsen, P.A. :
Prion forensics: a multidisciplinary approach to investigate CWD at an illegal deer carcass disposal site. Prion 18:72-86, 2024. Pubmed reference: 38676289. DOI: 10.1080/19336896.2024.2343298.
2023 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.
Rowden, G.R., Picasso-Risso, C., Li, M., Schwabenlander, M.D., Wolf, T.M., Larsen, P.A. :
Standardization of data analysis for RT-QuIC-Based detection of chronic wasting disease. Pathogens 12, 2023. Pubmed reference: 36839581. DOI: 10.3390/pathogens12020309.
Soto, P., Bravo-Risi, F., Benavente, R., Lichtenberg, S., Lockwood, M., Reed, J.H., Morales, R. :
Identification of chronic wasting disease prions in decaying tongue tissues from exhumed white-tailed deer. mSphere :e0027223, 2023. Pubmed reference: 37800903. DOI: 10.1128/msphere.00272-23.
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.
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.
Haley, N., Donner, R., Merrett, K., Miller, M., Senior, K. :
Selective breeding for disease-resistant PRNP variants to manage chronic wasting disease in farmed whitetail deer. Genes (Basel) 12, 2021. Pubmed reference: 34573378. DOI: 10.3390/genes12091396.
Hannaoui, S., Triscott, E., Duque Velásquez, C., Chang, S.C., Arifin, M.I., Zemlyankina, I., Tang, X., Bollinger, T., Wille, H., McKenzie, D., Gilch, S. :
New and distinct chronic wasting disease strains associated with cervid polymorphism at codon 116 of the Prnp gene. PLoS Pathog 17:e1009795, 2021. Pubmed reference: 34310662. DOI: 10.1371/journal.ppat.1009795.
Haworth, S.E., Nituch, L., Northrup, J.M., Shafer, A.B.A. :
Characterizing the demographic history and prion protein variation to infer susceptibility to chronic wasting disease in a naïve population of white-tailed deer (Odocoileus virginianus). Evol Appl 14:1528-1539, 2021. Pubmed reference: 34178102. DOI: 10.1111/eva.13214.
Nalls, A.V., McNulty, E.E., Mayfield, A., Crum, J.M., Keel, M.K., Hoover, E.A., Ruder, M.G., Mathiason, C.K. :
Detection of chronic wasting disease prions in fetal tissues of free-ranging White-Tailed Deer. Viruses 13, 2021. Pubmed reference: 34960698. DOI: 10.3390/v13122430.
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.
Ott-Conn, C.N., Blanchong, J.A., Larson, W.A. :
Prion protein polymorphisms in Michigan white-tailed deer (Odocoileus virginianus). Prion 15:183-190, 2021. Pubmed reference: 34751633. DOI: 10.1080/19336896.2021.1990628.
2020 Chafin, T.K., Douglas, M.R., Martin, B.T., Zbinden, Z.D., Middaugh, C.R., Ballard, J.R., Gray, M.C. :
Age structuring and spatial heterogeneity in prion protein gene (PRNP) polymorphism in white-tailed deer. Prion 14:238-248, 2020. Pubmed reference: 33078661. DOI: 10.1080/19336896.2020.1832947.
Ishida, Y., Tian, T., Brandt, A.L., Kelly, A.C., Shelton, P., Roca, A.L., Novakofski, J., Mateus-Pinilla, N.E. :
Association of chronic wasting disease susceptibility with prion protein variation in white-tailed deer (<i>Odocoileus virginianus</i>). Prion 14:214-225, 2020. Pubmed reference: 32835598. DOI: 10.1080/19336896.2020.1805288.
Perrin-Stowe, T.I.N., Ishida, Y., Terrill, E.E., Hamlin, B.C., Penfold, L., Cusack, L.M., Novakofski, J., Mateus-Pinilla, N.E., Roca, A.L. :
Prion protein gene (PRNP) sequences suggest differing vulnerability to chronic wasting disease for Florida Key deer (Odocoileus virginianus clavium) and Columbian white-tailed deer (O. v. leucurus). J Hered 111:564-72, 2020. Pubmed reference: 32945850. DOI: 10.1093/jhered/esaa040.
Seabury, C.M., Oldeschulte, D.L., Bhattarai, E.K., Legare, D., Ferro, P.J., Metz, R.P., Johnson, C.D., Lockwood, M.A., Nichols, T.A. :
Accurate Genomic Predictions for Chronic Wasting Disease in U.S. White-Tailed Deer. G3 (Bethesda) 10:1433-1441, 2020. Pubmed reference: 32122960. DOI: 10.1534/g3.119.401002.
2019 Miller, W.L., Walter, W.D. :
Spatial heterogeneity of prion gene polymorphisms in an area recently infected by chronic wasting disease. Prion 13:65-76, 2019. Pubmed reference: 30777498. DOI: 10.1080/19336896.2019.1583042.
2018 Brandt, A.L., Green, M.L., Ishida, Y., Roca, A.L., Novakofski, J., Mateus-Pinilla, N.E. :
Influence of the geographic distribution of prion protein gene sequence variation on patterns of chronic wasting disease spread in white-tailed deer (Odocoileus virginianus). Prion 12:204-215, 2018. Pubmed reference: 30041562. DOI: 10.1080/19336896.2018.1474671.
1997 Spraker, T.R., Miller, M.W., Williams, E.S., Getzy, D.M., Adrian, W.J., Schoonveld, G.G., Spowart, R.A., Orourke, K.I., Miller, J.M., Merz, P.A. :
Spongiform encephalopathy in free-ranging mule deer (Odocoileus hemionus), white-tailed deer (Odocoileus virginianus) and rocky mountain elk (Cervus elaphus nelsoni) in northcentral Colorado Journal of Wildlife Diseases 33:1-6, 1997. Pubmed reference: 9027685.

Edit History

  • Created by Frank Nicholas on 26 Oct 2020
  • Changed by Imke Tammen2 on 01 Jul 2021
  • Changed by Imke Tammen2 on 13 Aug 2021
  • Changed by Imke Tammen2 on 25 Aug 2021
  • Changed by Imke Tammen2 on 27 Aug 2021
  • Changed by Imke Tammen2 on 03 Oct 2021
  • Changed by Imke Tammen2 on 21 Jan 2022
  • Changed by Frank Nicholas on 20 Feb 2022