Journal of Heredity Advance Access originally published online on November 21, 2007
Journal of Heredity 2007 98(7):678-686; doi:10.1093/jhered/esm091
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Molecular Characterization of the Rocky Mountain Elk (Cervus elaphus nelsoni) PRNP Putative Promoter
From the Department of Veterinary Pathobiology, College of Veterinary Medicine, Texas A&M University, College Station, TX 77843-4467 (Seabury, Templeton, Derr, Owens, Davis, and Womack); Department of Animal Science, Texas A&M University, College Station, TX 77843-2471 (Gill and Adelson); Cervid Research and Recovery Institute, Ignacio, CO 81137 (Dyar); and Department of Veterinary Physiology and Pharmacology, College of Veterinary Medicine, Texas A&M University, College Station, TX 77843-4466 (Kraemer)
Address correspondence to C. M. Seabury at the address above, or e-mail: cseabury{at}cvm.tamu.edu.
Chronic wasting disease (CWD) is a transmissible spongiform encephalopathy (TSE) affecting deer (Odocoileus spp.), moose (Alces alces), and Rocky Mountain elk (Cervus elaphus nelsoni). Leucine homozygosity at elk PRNP codon 132 has been associated with reduced CWD susceptibility. However, naturally acquired CWD has been detected in elk possessing the 132 Leu/Leu genotype. Recent human and bovine studies indicate that PRNP regulatory polymorphisms may also influence TSE occurrence. Therefore, we generated sequences for the elk PRNP putative promoter (2.2 kb), exon 1 (predicted; 54 bp), intron 1 (predicted; 193 bp), and exon 3 (771 bp). Promoter prediction analysis using CpGProD yielded a single elk PRNP promoter that was homologous to regions of known promoter activity in cow and sheep. Molecular interrogation of the elk PRNP putative promoter revealed 32 diallelic single-nucleotide polymorphisms (SNPs). No variation was detected within the predicted exon 1 or intron 1 sequences. Evaluation of elk PRNP exon 3 revealed 3 SNPs (63Y, 312R, 394W
Met/Leu). Bayesian haplotype reconstruction resulted in 3 elk PRNP haplotypes, with complete linkage disequilibrium observed between all PRNP putative promoter SNPs and codon 132. The results of this study provide the initial genomic foundation for future comparative and haplotype-based elk PRNP studies.
Corresponding Editor: Stephen J. O'Brien
Received February 13, 2007
Accepted September 24, 2007