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제주마 Transferrin Gene Exon 13, 15 및 16의 다형현상

Polymorphisms of the Exons 13, 15 and 16 of Transferrin Gene in Cheju Horses

  • 김남영 (제주대학교 동물자원과학과) ;
  • 이성수 (농촌진흥청 제주농업시험장) ;
  • 양영훈 (제주대학교 동물자원과학과)
  • Kim, N.Y. (Department of Animal Biotechnology, Cheju National University) ;
  • Lee, S.S. (National Jeju Agricultural Experiment Station, R.D.A.) ;
  • Yang, Y.H. (Department of Animal Biotechnology, Cheju National University)
  • 발행 : 2002.08.31

초록

본 연구는 제주마집단(GroupⅠ, 제주도 축산진흥원 사육, 137두; Group II, 농가사육, 30두)과 더러브렛 품종집단(한국마사회 육성마목장, 43두)을 이용하여 SSCP를 통한 Transferrin exon 13, 15, 16의 다형현상 확인과 각 SSCP 유전자형의 염기서열을 분석하기 위하여 수행하였다. 공시재료에서 SSCP에서 관찰된 band에 의한 분석결과 대립인자는 exon 13, 15 및 16에서 각각 2개(A,B), 3개(A,B,C) 및 3개(A,B,C)가 존재하는 것으로 확인되었다. Transferrin exon 13에서 제주마와 더러브렛 집단 모두 A인자가 매우 높게 분포하고 있음이 확인되었다. exon 15에서는 그룹간의 빈도차를 확인 할 수 있었다. exon 15에서 높게 출현되고 있는 유전자형은 GroupⅠ에서 AB (0.445)형, GroupⅡ에서 AA(0.367)형, 더러브렛 품종에서는 AA(0.767) 유전자형이 가장 높은 빈도로 출현되어 제주마 집단간 또는 품종간에 빈도의 차이를 관찰할 수 있었다. exon 16에서는 GroupⅠ은 A, B, C 인자, GroupⅡ에서는 A 및 B 2종류의 인자형이 확인되었고 더러브렛 품종에서는 A인자형만 검출되었다. exon 16에서도 그룹간에 유전인자의 빈도차를 확인 할 수 있었다. 또한 exon 13, 15 및 16의 조합으로 형성된 개체의 유전자형은 전체 13종류가 출현되었고 이 조합도 그룹간 차이를 확인 할 수 있었다. SSCP 유전자형에 따른 각 인자들에 대한 염기서열을 분석한 결과 exon 13과 16에서 각 1개의 새로운 SNP가 발견되었다. 본 연구결과 제주마 transferrin exon 13, 15, 16은 더러브렛 품종에서와 같이 높은 대립인자의 다형성을 보였으며, 각 Group 간 빈도차를 확인 할 수 있었다.

This study was conducted to determine the polymorphism of transferrin exons 13, 15 and 16 by Single-Strand Conformation Polymorphism(SSCP) analysis and to compare their genotypes of Cheju horse Group I (Cheju Institute), Cheju horse Group II (farms), and Thoroughbred (KRA). SSCP of transferrin exon 13, 15, and 16 showed two (A, B), three (A, B, C) and three (A, B, C) codominant alleles, respectively. The Group I and Thoroughbred showed the similar frequencies of allele A and B in transferrin exon 13, but only allele A was observed in Group Ⅱ. In transferrin exons 15 and 16, the frequencies of each allele were different in each Groups. The multiple allele frequencies in exons 15 and 16 suggested that the genotyping of this locus could be used to identify an individual and to test the parentage of offspring. The probability for parentage exclusion were 0.46 and 0.374 for exons 15 and 16 for Cheju horse Group I. Among the 13 combined genotypes of exons 13, 15 and 16, the genotype AA-AB-AB (0.372) is the most common in Cheju horse Group I, but genotype AA-AA-AA is common in the Cheju horse Group II (0.366) and Thoroughbred (0.767). The present study showed two new SNP, which was at the cDNA position 1626 (A/G) in B allele of the exon 13 and 2075 (C/T) in C allele of the exon 16 resulting in amino acid change (Threonine $\longrightarrow$ Methionine). Result showed that polymorphism of exons 13, 15 and 16 in Cheju horses was as high as in Thoroughbred and there was a differences of transferrin allele frequencies in Cheju horses.

키워드

참고문헌

  1. Alberts, B., Bray, D., Lewis, J., Raff, M., Roberts, K. and Watson, J. D. 1989. Molecular Biology of The Cell. 2nd ed., Garland Publishing, Inc., New York, U.S.A.
  2. Anderson, B. F., Baker, H. M., Norris, G. E., Rice, D. W. and Baker, E. N. 1989. Structure of human lactoferrin: Crystal structure analysis and refinement at 2.8A resolution. Journal of Molecular Biology. 209:711-734. https://doi.org/10.1016/0022-2836(89)90602-5
  3. Baily, S., Evans, R. W., Garratt, R. C., Gorinsky, B., Hasnain, S., Horsburgh, C., Jhoti, H., Lindley, P. F., Mydin, A., Sarra, R. and Watson, J. L. 1988. Molecular structure of serum transferrin at 3.3-A resolution. Biochemistry. 27:5804-5812.
  4. Baker, E. N., Rumball, S. V. and Anderson, B. F. 1987. Transferrin: insights into structure and function from studies on lactoferrin. Trends in biochemical science. 12:350-353.
  5. Bowling, A. T. 1996. Horse Genetics. CAB International., Oxford Publications., P. 84-86.
  6. Brandon, R. B., Giffard, J. M. and Bell, K. 1999. Single nucleotide polymorphisms in the equine transferrin gene. Animal Genetics. 30:439-443.
  7. Carpenter, M. A. and Broad, T. E. 1993. The cDNA sequence of horse transferrin. Biochimica et Biophysica Acta. 1173:230-232. https://doi.org/10.1016/0167-4781(93)90186-H
  8. Carpenter, M. A. and Broad, T. E. 1994. Poly- morphismin the coding sequence of the horse transferrin gene. Genome. 37:157-165. https://doi.org/10.1139/g94-020
  9. Choung, C. C., Yang, Y. H., Kim, J. K. and Kang, M. S. 1991. Studies on the classification for the registration of the Cheju Native Horse. I. Body measurements by location, sex, and age. Korean Journal of Animal Science. 33(6):418-422.
  10. Gardner, E. J., Simmons, M. J. and Smustad, D. P. 1991. Principles of Genetics, 8th ed. John Wiley & Sons, Inc.
  11. Ghareeb, B. A. A., Thepot, D., Puissant, C., Cajero-Juarez, M. and Houdebine, L. M. 1998. Cloning, structural organization and tissue-specific expression of the rabbit transferrin gene. Bio- chimica et Biophysica Acta. 1398:387-392. https://doi.org/10.1016/S0167-4781(98)00074-8
  12. Jamieson, A. and Taylor, St. C. S. 1997. Com- parisons of three probability formulae for parent- age exclusion. Animal Genetics. 28:397-400.
  13. Kim, G. O. and Oh, M. Y. 1995. Polymorphism of Plasma Proteins by Two Dimensional Hori- zontal Electrophoresis in Cheju Native Horse. Korean Journal of Animal Science. 37(6):603-610.
  14. Kim, K. I., Yang, Y. H., Lee, S. S., Park, C., Ma, R., Bouzat, J. L. and Lewin, H. A. 1999. Phylogenetic relationships of Cheju horses to other horse breeds as determined by mtDNA D-loop sequence polymorphism. Animal Genetics. 30:102-108. https://doi.org/10.1046/j.1365-2052.1999.00419.x
  15. Lear, T. L., Brandon, R., Masel, A., Bell, K. and Bailey, E. 1999. Horse alpha-1-antitrypsin, beta- lactoglobulins 1 and 2, and transferrin map to positions 24q15-q16, 28q18-qter, 28q18-qter and 16q23, respectively. Chromosome Research. 7:667.
  16. Lee, K. M. 1961. Biostatistic study on the type of the Cheju Horse in Quelport. Korean Journal of Animal Science. 3:63-73.
  17. Lehninger, A. L. 1982. Principles of Biochemistry. Worth Publishers, Inc., New York, U.S.A.
  18. Miller, S. A., Dykes, D. D. and Polesky, H. F. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research. 16(3):1215.
  19. Oh, M. Y., Ko, M. H., Kim, G. O., Kim, S. J., Chung, C. C. and Kim, K. I. 1992. Genetic variations of the blood proteins in Cheju Native Horses. Korean Journal of Genetics. 14(1):39-50.
  20. Oh, Y. S., Oh, M. Y., Kim, S. J., Kim, G. O., Ko, M. H. and Yang, Y. H. 1995. Phylogenetic study of Cheju and Tsushima Native Horses. Korean Journal of Animal Science. 38:324-329.
  21. Orita, M., Suzuki, Y., Sekiya, T. and Hayashi, K. 1989. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 5:874-879.
  22. Schaeffer, E., Lucero, M. A., Jeltsch, J. M., Py, M. C., Levin, M. J., Chambon, P., Cohen, G. N. and Zakin, M. M. 1987. Complete structure of the human transferrin gene. Comparison with the analogous chicken gene and human pseudogene. Gene. 56:109-116. https://doi.org/10.1016/0378-1119(87)90163-6
  23. Shin, J. A., Kim, S. H., Kim, Y. H., Chun, C. I. and Lee, K. K. 1999. Genetic Polymorphism of Serum Protein in Horses on Cheju. Journal of Research Institute for Animal Biotechnology. 14:149-157.
  24. Shirsat, N. V., Bittenbender, S., Kreider, E. L. and Rovera, G. 1992. Structure of the murine lactotransferrin gene is similar to the structure of other transferrin-encoding genes and shares a putative regulatory region with the murine myeloperoxidase gene. Gene. 110:229-233.
  25. Weaver, R. F. and Hedrick, P. W. 1991. Basic Genetic. Wm. C. Brown Publishers, IA 52001. U.S.A.
  26. Yang, Y. H., Chang, C. C., Lee, H. J. and Kang, T. S. 1991. Studies on the classification for the registration of the Cheju Native Horse. Ⅱ. The effect of the Registration Grade on the Body Measurements of Cheju Native Horse. Korean Journal of Animal Science. 33(6):438-443.
  27. Yang, Y. H., Kim, J. and Cho, D. J. 1996. Estimation of the Growth Performance of Cheju Native Horse in Cheju Island. Journal of Research Institute for Animal Biotechnology. 11:9-28.