Investigation of TYR and MC1R polymorphisms in Korean native chickens and the commercial chickens

토종닭과 실용계에서 TYR 및 MC1R 유전자의 변이 분석

  • 허강녕 (농촌진흥청 국립축산과학원) ;
  • 추효준 (농촌진흥청 국립축산과학원) ;
  • 서보영 (대검찰청 DNA수사담당관실) ;
  • 박미나 (농촌진흥청 국립축산과학원) ;
  • 정기철 (국립농산물품질관리원) ;
  • 황보종 (농촌진흥청 국립축산과학원) ;
  • 김학규 (농촌진흥청 국립축산과학원) ;
  • 홍의철 (농촌진흥청 국립축산과학원) ;
  • 서옥석 (농촌진흥청 국립축산과학원) ;
  • 강보석 (농촌진흥청 국립축산과학원)
  • Received : 2011.09.02
  • Accepted : 2011.09.19
  • Published : 2011.09.30


The commercial Korean native chickens (WR_CC) was developed by crossing a few native chicken breeds in Korea. In order to investigate the breed identification markers, SNPs from TYR gene and MC1R gene, which are associated with skin and feather colors respectively, were initially identified. In case of 3 identified SNPs in the TYR gene, yellow shank color was identified in Loss, Harvard, AA, RIR and CC, which have the fixed SNPs in most of the animals. On the other hand, SNP variations were observed in KNC_RB, C_B, WR_CC and HH_CC, which have the black, yellow and mixed color with black and yellow shank colors. Also, the investigation of 3 SNPs in the MC1R gene indicated that there were associations between shank and feather colors in RIR, SF, KNC_B, C_B and RIR. However, these results are not consistent among breeds. These SNP type inconsistencies within breeds suggested that the selection was performed based on the phenotypes, which is not include the genotype information. Thus, selection based on genetic information is required in the future.



Supported by : 국립축산과학원


  1. Chan PA, Duraisamy S, Miller PJ, Newell JA, McBride C, Bond JP, Raevaara T, Ollila S, Nystrom M, Grimm AJ, Christodoulou J, Oetting WS, Greenblatt MS. 2007. Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR). Hum. Mutat. 28(7): 683-693.
  2. Chang CM, Coville JL, Coquerelle G, Gourichon D, Oulmouden A, Tixier-Boichard M. 2006. Complete association between a retroviral insertion in the tyrosinase gene and the recessive white mutation in chickens. BMC Genomics 7: 19-19.
  3. Denovan-Wright EM, Ramsey NB, McCormick CJ, Lazier CB, Wright JM. 1996. Nucleotide sequence of transferrin cDNAs and tissue-specific of the transferrin gene in Atlantic cod (Gadus morhua). Comp. Biochem. Physiol. B. Biochem. Mol. Biol. 113(2): 269-273.
  4. Evert RE, Rothuizen J, van Oost BA. 2000. Identification of a premature stop codon in the melanocyte- stimulating hormone receptor gene(MC1R) in labrador and golden retrievers with yellow coat color. Anim. Genet. 31: 194-199.
  5. Jackson IJ, Budd P, Horn JM, Johnson R, Raymond S, Steel K. 1994. Genetics and molecular biology of mouse pigmentation. Pigment Cell Res. 7(2): 73-80.
  6. Kefala G, Gogas H. RT-PCR for tyrosinase expression as a molecular marker in malignant melanoma. J. BUON. 7(4): 325-330.
  7. Kerje S, Lind J, Schutz K, Jensen P, Andersson L. 2003. Melanocortin 1-receptor (MC1R) mutations are associated with plumage colour in chicken. Anim. Genet. 34(4): 241-248.
  8. Kijas JMH, Wales R, Törnsten A, Chardon P, Moller M, Andersson L. 1998. Melanocortin receptor 1(MC1R) mutations and coat color in pigs. Genetics 150: 1177- 1185.
  9. Klungland H, Vage DI, Gomez-Raya L, Adalsteinsson S, Lien S. 1995. The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination. Mamm. Genome 6(9): 636-639.
  10. Lerner AB, Fitzpatrick TB. 1950. Biochemistry of melanin formation. Physiol. Rev. 30(1): 91-126.
  11. Mochii M, Iio A, Yamamoto H, Takeuchi T, Eguchi G. 1992. Isolation and characterization of a chicken tyrosinase cDNA. Pigment Cell Res. 5(4): 162-167.
  12. Newton JM, Wilkie AL, He L, Jordan SA, Metallinos DL, Holmes NG, Jackson IJ, Barsh GS. 2000. Melanocortin 1 receptor variation in the domestic dog. Mamm. Genome 11(1): 24-30.
  13. Pielberg G, Olsson C, Syvanen AC, Andersson L. 2002. Unexpectedly high allelic diversity at the KIT locus causing dominant white color in the domestic pig. Genetics 160: 305-311.
  14. Robbins LS, Nadeau JH, Johnson KR, Kelly MA, Roselli- Rehfuss L, Baack E, Mountjoy KG, Cone RD. 1993. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 72(6): 827-834.
  15. Sato S, Otake T, Suzuki C, Saburi J, Kobayashi E. 2007. Mapping of the recessive white locus and analysis of the tyrosinase gene in chickens. Poult. Sci. 86(10): 2126-2133.
  16. Sazanov A, Masabanda J, Ewald D, Takeuchi S, Tixier- Boichard M, Buitkamp J, Fries R. 1998. Evolutionarily conserved telomeric location of BBC1 and MC1R on a microchromosome questions the identity of MC1R and a pigmentation locus on chromosome 1 in chicken. Chromosome Res. 6(8): 651-654.
  17. Takeuchi S, Suzuki H, Yabuuchi M, Takahashi S. 1996. A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the chicken. Biochim. Biophys. Acta. 1308(2): 164-168.
  18. Tobita-Teramoto T, Jang GY, Kino K, Salter DW, Brumbaugh J, Akiyama T. 2000. Autosomal albino chicken mutation (ca/ca) deletes hexanucleotide (-delta GACTGG817) at a copper-binding site of the tyrosinase gene. Poult Sci 79(1): 46-50.
  19. Vage DI, Lu D, Klungland H, Lien S, Adalsteinsson S, Cone RD. 1997. A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes. Nat. Genet. 15(3): 311-315.
  20. Zhang JQ, Chen H, Sun ZJ, Liu XL, Qiang-Ba YZ, Gu YL. 2010. Flesh color association with polymorphism of the tyrosinase gene in different Chinese chicken breeds. Mol. Biol. Rep. 37(1): 165-169.