Genomic Sequence Variability of the Prion Gene (PRNP) in Korean Cattle

  • Choi, Sang-Haeng (Genome Research Center, Korea Research Institute of Bioscience and Biotechnology) ;
  • Chae, Sung-Hwa (Genome Research Center, Korea Research Institute of Bioscience and Biotechnology) ;
  • Choi, Han-Ho (Genome Research Center, Korea Research Institute of Bioscience and Biotechnology) ;
  • Kim, Jeong-Seon (Genome Research Center, Korea Research Institute of Bioscience and Biotechnology) ;
  • Kang, Bo-Ra (Genome Research Center, Korea Research Institute of Bioscience and Biotechnology) ;
  • Yeo, Jung-Sou (Department of Biotechnology and School of Biotechnology, Yeungnam University) ;
  • Choi, Inho (Department of Biotechnology and School of Biotechnology, Yeungnam University) ;
  • Lee, Yong-Seok (Department of Parasitology and Malariology, PICR, College of Medicine and Frontier Inje Research for Science and Technology, Inje University) ;
  • Choy, Yun-Ho (Hanwoo Experiment Station, Rural Development Administration) ;
  • Park, Hong-Seog (Genome Research Center, Korea Research Institute of Bioscience and Biotechnology)
  • Received : 2006.05.10
  • Accepted : 2006.08.22
  • Published : 2007.05.01


In this study, we have investigated sequence variants in the PRNP gene of 20 individuals belonging to the Korean cattle, and have analyzed and compared genetic features between varieties of other cattle breeds. Of the 73 sequence variants identified in Korean cattle, 27 were identified for the first time in this study, whereas 46 of these polymorphisms had previously been isolated. We discovered a 2.6 kb SNP hot spot region localized on the putative promoter region of the PRNP gene. Furthermore, the copy numbers of the octapeptide repeat (24 bp indel) which is detected on the coding sequence (CDS) of the PRNP exhibited a completely homozygous 6/6 genotype which is dominant in other cattle breeds. We also characterized a new 19 bp/10 bp allele located on the putative promoter region of the PRNP gene, which represented 0.71 in allele frequency. To the best of our knowledge, this report is the first to address polymorphisms of the PRNP gene structure in Korean cattle in which BSE has yet to be discovered. Therefore, our findings may prove useful with regard to our current understanding of allelic diversity in bovine species, and may also provide new insights into the genetic factors associated with susceptibility or resistance to BSE.


PRNP;SNP;BSE;Indel;Korean Cattle


Supported by : Rural Development Administration


  1. Goldmann, W., N. Hunter, T. Martin, M. Dawson and J. Hope. 1991. Different forms of the bovine PrP gene have five or six copies of a short, G-C-rich element within the protein-coding exon. J. General Virol. 72:201-204.
  2. Heaton, M. P., K. A. Leymaster, B. A. Freking, D. A. Hawk, T. P. Smith, J. W. Keele, W. M. Snelling, J. M. Fox, C. C. Chitko- McKown and W. W. Laegreid. 2003. Prion gene sequence variation within diverse groups of U.S. sheep, beef cattle, and deer. Mammalian Genome 14:765-777.
  3. Humeny, A., K. Schiebel, S. Seeber and C. M.Becker. 2002. Identification of polymorphisms within the bovine prion protein gene (PRNP) by DNA sequencing and genotyping by MALDITOF-MS. Neurogene. 4:59-60.
  4. Hunter, N., W. Goldmann, G. Smith and J. Hope. 1994. Frequencies of PrP gene variants in healthy cattle and cattle with BSE in Scotland. Vet. Record. 135:400-403.
  5. Kong, H. S., J. D. Oh, S. G. Lee, Y. S. Hong, W. I. Song, S. J. Lee, H. C. Kim, B. H. Yoo, H. K. Lee and G. J. Jeon. 2006. Association of Polymorphisms in the Bovine Leptin Gene with Ultrasound Measurements for Improving in Korean Cattle. Asian-Aust. J. Anim. Sci. 19(12):1691-1695.
  6. Takasuga, A., T. Abe, T. Ito, T. Watanabe, N. Kamatani and Y. Sugimoto. 2003. Novel prion protein polymorphisms in cattle. Anim. Genet. 34:384-397.
  7. Walawski, K. and U. Czarnik. 2003a. Prion protein octapeptiderepeat polymorphism in Polish Black-and-White cattle. J. Applied Genet. 44(2):191-195.
  8. Walawski, K., U. Czarnik, R. Wojciechowski and C. S. Pareek. 2003b. Abnormal segregation of prion protein octapeptiderepeat alleles in cattle. J. Applied Genet. 44(3):375-378.
  9. Zhou Guo-li, Zhu Qi, Jin Hai-guo1 and Guo Shan-li. 2006. Genetic Variation of Growth Hormone Gene and Its Relationship with Milk Production Traits in China Holstein Cows. Asian-Aust. J. Anim. Sci. 19(3):315-318.
  10. Seabury, C. M., R. L. Honycutt, A. P. Rooney, N. D. Halbert and J. N. Derr. 2004b. Prion protein gene (PRNP) variants and evidence for strong purifying selection in functionally important regions of bovine exon 3. Proceed. Natl. Acad. Sci. USA 101:15142-15147.
  11. Choi, S. H., I. C. Kim, D. S. Kim, S. H. Chae, H. H. Choi, I. Choi, J. S. Yeo, M. N. Song and H. S. Park. 2006. Comparative genomic organization of the human and bovine PRNP locus. Genom. 87:598-607.
  12. Hills, D., S. Comincini, J. Schlaepfer, G. Dolf, L. Ferretti and J. L. Williams. 2001. Complete genomic sequence of the bovine prion gene (PRNP) and polymorphism in its promoter region. Animal Genetics 32:231-232.
  13. Wilesmith, J. W. 1991. Origins of BSE. Veterinary Record 128: 310.
  14. Sander P., H. Hamann, I. Pfeiffer, W. Wemheuer, B. Brenig, M. H. Groschup, U. Ziegler, O. Distl and T. Leeb. 2004. Analysis of sequence variability of the bovine prion protein gene (PRNP) in German cattle breeds. Neurogene. 5:19-25.
  15. Bossers, A., R. de Vries and M. A. Smits. 2000. Susceptibility of sheep for scrapie as assessed by in vitro conversion of nine naturally occurring variants of PrP. J. Virol. 74:1407-1414.
  16. Cheong, H. S., D. H. Yoon, L. H. Kim, B. L. Park, E. R. Chung, H. J. Lee, I. C. Cheong, S. J. Oh and H. D. Shin. 2006. Leptin Polymorphisms Associated with Carcass Traits of Meat in Korean Cattle. Asian-Aust. J. Anim. Sci. 19(11):1529-1535.
  17. Yoshimoto, J., T. Iinuma, N. Ishiguro, M. Horiuchi, M. Imamura and M. Shinagawa. 1992. Comparative sequence analysis and expression of bovine PrP gene in mouse L-929 cells. Virus Genes 6:343-356.
  18. Premzl, M., P. Bozic and V. Gamulin. 2000. PRNP octarepeat allele genotype frequencies among the modern and rare cattle breeds in Croatia. Anim. Gene. 31:408-409.
  19. Bruce, M. E., R. G. Will, J. W. Ironside, I. McConnell, D. Drummond, A. Suttie, L. McCardle, A. Chree, J. Hope, C. Birkett, S. Cousens, H. Fraser and C. J. Bostock. 1997. Transmissions to mice indicate that 'new variant' CJD is caused by the BSE agent. Nature 389:498-501.
  20. Seabury, C. M., J. E. Womack, J. Piedrahita and J. N. Derr. 2004a. Comparative PRNP genotyping of U.S. cattle sires for potential association with BSE. Mammalian Genome 15:823-833.
  21. Collinge, J. 2001. Prion diseases of humans and animals: their causes and molecular basis. Ann. Review of Neuroscience 24: 519-550.
  22. Hills, D., J. Schlaepfer, S. Comincini, I. MacLean, G. Dolf, L. Ferretti, I. Olsaker and J. L. Williams. 2003. Sequence variation in the bovine and ovine PRNP genes. Anim. Gene. 34:183-190.
  23. Schlapfer, I., N. Saitbekova, C. Gaillard and G. Dolf. 1999. A new allelic variant in the bovine prion protein gene (PRNP) coding region. Anim. Gene. 30:386-387.
  24. Prusiner, S. B., M. R. Scott, S. J. DeArmond and F. E. Cohen. 1998. Prion Protein Biol. Cell 93:337-344.
  25. Zhang, L., N. Li, B. Fan, M. Fang and W. Xu. 2004. PRNP polymorphisms in Chinese ovine, caprine and bovine breeds. Anim. Genet. 35:457-461.
  26. Asante, E. A., J. M. Linehan, M. Desbruslais, S. Joiner, I. Gowland, A. L. Wood, J. Welch, A. F. Hill, S. E. Lloyd, J. D. Wadsworth and J. Collinge. 2002. BSE prions propagate as either variant CJD-like or sporadic CJD-like prion strains in transgenic mice expressing human prion protein. EMBO. J. 21:6358-6366.
  27. Scott, M. R., R. Will, J. Ironside, H. O. Nguyen, P. Tremblay, S. J. DeArmond and S. B. Prusiner. 1999. Compelling transgenetic evidence for transmission of bovine spongiform encephalopathy prions to humans. Proceed. Natl. Acad. Sci. (USA) 96:15137-15142.

Cited by

  1. Quantitative Analysis of Central Nervous System Tissues (CNST) in Beef By-Products in Retail Market vol.32, pp.2, 2012,
  2. Genetic variability of the coding region for the prion protein gene (PRNP) in gayal (Bos frontalis) vol.39, pp.2, 2012,