ARS | Publication request: Prevalence of the prion gene E211K variant in U.S. cattle

Submitted to: Meeting Abstract
Publication Type: Abstract Only
Publication Acceptance Date: October 5, 2007
Publication Date: January 2, 2008
Citation: Heaton, M.P., Keele, J.W., Harhay, G.P., Richt, J., Koohmaraie, M., Wheeler, T.L., Shackelford, S.D., Casas, E., King, D.A., Sonstegard, T.S., Van Tassell, C.P., Neibergs, H.L., Chase, C.C., Kalbfleisch, T.S., Smith, T.P., Clawson, M.L., Laegreid, W.W. 2008. Prevalence of the prion gene E211K variant in U.S. cattle (abstract). Plant and Animal Genome XVI Conference. Poster No. P538.

Technical Abstract: In 2006, an atypical U.S. case of bovine spongiform encephalopathy (BSE) was discovered in Alabama and later reported to be polymorphic for glutamate (E) and lysine (K) codons at position 211 in the bovine prion gene (PRNP) coding sequence. A bovine E211K mutation is important because it is analogous to the most common pathogenic mutation in humans (E200K) which causes hereditary Creutzfeldt-Jakob Disease, an autosomal dominant form of prion disease. The present report describes a high-throughput matrix-associated laser desorption/ionization-time-of-flight mass spectrometry (MALDI-TOF MS) genotype assay for scoring the PRNP E211K variant and its use to determine an upper limit for the K211 allele prevalence in U.S. cattle. The K211 allele was not detected in more than 5500 cattle, including those from five commercial beef processing plants in three states (3892 carcasses) and more than 1600 registered cattle from 30 breeds. Nearby polymorphisms in PRNP coding sequences obtained from more than 950 diverse purebred cattle (30 breeds) did not interfere with scoring E211 or K211 alleles. Based on cattle in this study, the prevalence of the E211K variant was estimated to be extremely low, less than 1 in 1800 cattle (based on 95% of the posterior distibution with a uniform prior). Consequently, high-throughput DNA testing may be required to identify carriers and further evaluate this allele as a risk factor for atypical BSE.