생명과학회지 (Journal of Life Science)

  • 제19권6호
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  • Pages.793-798
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  • 2009
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  • 1225-9918(pISSN)
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  • 2287-3406(eISSN)
한국생명과학회 (Korean Society of Life Science)
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제주마에서 총마 모색의 유전 양성과 후보 유전좌위의 유전적 다형성

Genetic Polymorphisms of Candidate Loci and Inheritance Ppatterns of Gray Coat Color in Jeju Horses.

  • 한상현 (농촌진흥청 국립축산과학원 제주출장소) ;
  • 이종언 (농촌진흥청 국립축산과학원 제주출장소) ;
  • 김남영 (농촌진흥청 국립축산과학원 제주출장소) ;
  • 고문석 (농촌진흥청 국립축산과학원 제주출장소) ;
  • 정하연 (농촌진흥청 국립축산과학원 제주출장소) ;
  • 이성수 (농촌진흥청 국립축산과학원)
  • 발행 : 2009.06.30
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초록

본 연구는 제주마에서 빈번하게 관찰되는 전신성 백모색 발생의 유전 양상과 유전적 변이와의 상관을 구명하기 위해 수행하였다. 백모색은 표현형과 MC1R 유전자형 분석 자료의 조합을 근거로 결정한 가라, 유마, 적다 등 모든 기본 모색에서 관찰되었다. 제주마에서는 타 품종들에서 KIT 유전자의 이형 접합성에 의해 발생하는 선천성 백색에 대한 잠재적 돌연변이 들은 발견되지 않았다. STX17 유전자의 intron 6 에서 4.6-kb 중복을 보유한 개체들에서 특이적으로 탈색된 백모색이 관찰되었다. 관찰기록과 STX17 유전자형에 따라 제주마에서 관찰되는 탈색된 백화현상은 총마(점진적 백화증, Gray) 로 확인되었다. 가계도 분석에서 총마 형질은 상동염색체성 우성유전형 질로 나타났으며 상동염색체성 열성형질인 albinism과도 구분되었다. 제주마에서 총마 모색이 자마 시기에는 명확하게 발현되는 않으며, 종종 다른 표현형들과 혼동을 일으키기도 하기 때문에, 총마와 이와 유사한 표현형으로 출생 시부터 혼합 모색을 나타내는 조모색, 상처 치료 후 백화, 백반 유사피부 백색증 등에 대한 추가 연구가 요구된다고 하겠다. 그럼에도 불구하고 총마와 유전적 배경의 관계를 구명한 본 연구결과는 제주마에서 분자육종을 위한 유용한 정보를 제공할 것으로 사료된다.

This study was undertaken to reveal the relationship between genetic variations and inheritance patterns and the development of a systemic white coat color frequently observed in Jeju horses. It was determined that the white coat color occurred in all basic coat colored (black, bay and chestnut) horses by combining the phenotype and MC1R genotypes. There were no polymorphisms found in Jeju horses tested for mutational loci in the KIT gene, which were previously reported as potential mutations of the congenital dominant white coat color in other horse breeds in heterogeneity. The horses that had the 4.6-kb duplication in the STX17 intron 6 specifically showed the depigmented white coat color. Based on observation and STX17 genotypes, this depigmented whitening is defined as 'Chongma' (whitening, progressive graying with age-Gray) in Jeju horses. Pedigrees showed that this is an autosomal dominant inheritance pattern distinct from the bovine albinism caused by an autosomal recessive passion eye color. Because the gray phenotype is generally not completely expressed early in Jeju horses, it often makes them indistinguishable from other horses. Further studies are recommended for classification between the gray coat color and its similar phenotypes, such as the roan with its mixed hair colors appearing since neonatal period, acquired white hairs on wounded skin by veterinary treatment, and vitiligo-like skin pigmentation. However, study results revealing the relationship between the gray phenotype and genetic background suggested that useful information may be provided in regards to molecular breeding of Jeju horses.

키워드

참고문헌

  1. Blaszczyk, W. M., L. Arning, K. P. Hoffmann, and J. T. Epplen. 2005. A Tyrosinase missense mutation causes albinism in the Wistar rat. Pigment Cell Res. 18, 144-145 https://doi.org/10.1111/j.1600-0749.2005.00227.x
  2. Blaszczyk, W. M., C. Distler, G. Dekomien, L. Arning, K. P. Hoffmann, and J. T. Epplen. 2007. Identification of a tyrosinase (TYR) exon 4 deletion in albino ferrets (Mustela putorius furo). Anim. Genet. 38, 421-423 https://doi.org/10.1111/j.1365-2052.2007.01619.x
  3. Giebel, L. B., M. A. Musarella, and R. A. Spritz. 1991. A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. J. Med. Genet. 28, 464-467 https://doi.org/10.1136/jmg.28.7.464
  4. Gronskov, K., J. Ek, and K. Brondum-Nielsen. 2007. Oculocutaneous albinism. Orphanet. J. Rare Dis. 2, 43 https://doi.org/10.1186/1750-1172-2-43
  5. Haase, B., S. A. Brooks, A., Schlumbaum, P. J. Azor, E. Bailey, F. Alaeddine, M. Mevissen, D. Burger, P. A. Poncet, S. Rieder, and T. Leeb. 2007. Allelic heterogeneity at the equine KIT locus in dominant white (W) horses. PLoS Genet.3, e195 https://doi.org/10.1371/journal.pgen.0030195
  6. Imes, D. L., L. A. Geary, R. A. Grahn, and L. A. Lyons. 2006. Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation. Anim. Genet. 37, 175-178 https://doi.org/10.1111/j.1365-2052.2005.01409.x
  7. Marklund, L., M. J. Moller, K. Sandberg, and L. Andersson. 1996. A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses. Mamm. Genome 7, 895-899 https://doi.org/10.1007/s003359900264
  8. Marklund, S., M. J. Moller, K. Sandberg, and L. Andersson. 1999. Close association between sequence polymorphism in the KIT gene and the roan coat color in horses. Mamm. Genome 10, 283-288 https://doi.org/10.1007/s003359900987
  9. Metallinos, D. L., A. T. Bowling, and J. Rine. 1998. A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung Disease. Mamm. Genome 9, 426-431 https://doi.org/10.1007/s003359900790
  10. Pielberg, R. G., A. Golovko, E. Sundstrom, I. Curik, J. Lennartsson, M. H. Seltenhammer, T. Druml, M. Binns, C. Fitzsimmons, G. Lindgren, K. Sandberg, R. Baumung, M. Vetterlein, S. Stromberg, M. Grabherr, C. Wade, K. Lindblad-Toh, F. Ponten, C. H. Heldin, J. Solkner, and L. Andersson. 2008. A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse. Nat. Genet. 40, 1004-1009 https://doi.org/10.1038/ng.185
  11. Pielberg, G., S. Mikko, K. Sandberg, and L. Andersson. 2005. Comparative linkage mapping of the grey coat colour gene in horses. Anim. Genet. 36, 390-395 https://doi.org/10.1111/j.1365-2052.2005.01334.x
  12. Polus, W. L. and F. B. Hutt. 1969. Lethal dominant white in horses. J. Hered. 60, 59-63
  13. Oetting, W. S. and R. A. King. 1999. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum. Mutat. 13, 99-115 https://doi.org/10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C
  14. Rieder, S., S. Taourit, D. Mariat, B. Langlois, and G. Guerin. 2001. Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their association to coat color phenotypes in horses (Equus caballus). Mamm. Genome 12, 450-455 https://doi.org/10.1007/s003350020017
  15. Sambrook, J., E. F. Fritsch, and T. Manniatis. 1989. Molecular cloning: a laboratory mannual. 2nd Ed. Cold Spring Harbor Laboratory
  16. Santschi E. M., A. K. Purdy, S. J. Valberg, P. D. Vrotsos, H. Kaese, and J. R. Mickelson. 1998. Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses. Mamm. Genome 9, 306-309 https://doi.org/10.1007/s003359900754
  17. Schmutz, S. M., T. G. Berryere, D. C. Ciobanu, A. J. Mileham, B. H. Schmidtz, and M. Fredholm. 2004. A form of albinism in cattle is caused by a tyrosinase frameshift mutation. Mamm. Genome 15, 62-67 https://doi.org/10.1007/s00335-002-2249-5
  18. Sponenberg, D. P. 2003. Equine Coat Color Genetics. Blackwell. Ames, U.S.A
  19. Swinburne, J. E., A. Hopkins, and M. M. Binns. 2002. Assignment of the horse grey coat color gene to ECA25 using whole genome scanning. Anim. Genet. 33, 338-342 https://doi.org/10.1046/j.1365-2052.2002.00895.x
  20. Shutton, R. H. and G. T. Coleman. 1997. Melanoma and graying horse (RIRDC Research Paper Series). pp. 1-34. Barton, Australia
  21. Yang, G. C., D. Croaker, A. L. Zhang, P. Manglick, T. Cartmill, and D. Cass. 1998. A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease (HSCR). Hum. Mol. Genet. 7, 1047-1052 https://doi.org/10.1093/hmg/7.6.1047
  22. Zhao, Z. Z., D. L. Duffy, S. A. Thomas, N. G. Martin, N. K. Hayward, and G. W. Montgomery. 2009. Polymorphisms in the syntaxin 17 gene are not associated with human cutaneous malignant melanoma. Melanoma Res. [Epub ahead of print]

피인용 문헌

  1. Genetic Characterization of Wolla Coat Color in Jeju Horses vol.54, pp.5, 2012, https://doi.org/10.5187/JAST.2012.54.5.375
  2. Relationship Between MC1R and ASIP Genotypes and Basic Coat Colors in Jeju Horses vol.53, pp.2, 2011, https://doi.org/10.5187/JAST.2011.53.2.107