Identification of single nucleotide polymorphisms (SNPs) in the ovine melanocortin-1 receptor (MC1R) gene in Lori-Bakhtiari sheep

Document Type : Research Paper

Authors

1 M.Sc. Student, Department of Animal Science, Faculty of Agriculture, Yasouj University, Yasouj, Iran

2 Associate Professor, Department of Animal Science, Faculty of Agriculture, Yasouj University, Yasouj, Iran

Abstract

The melanocortin receptor 1 (MC1R), encoded by extension locus, plays an important role in coat color variation in livestock.  In this study, the 840 bp of 5′- flanking region and most part of coding sequence of ovine MC1R gene was sequenced in 15 Lori-Bakhtiari sheep with different coat colors. The results showed eight single nucleotide polymorphisms (SNPs): five synonymous mutations (c.464G.A, c.557G>C, c.635c>T, c.692C>T and c.932C>T) and three non-synonymous mutations (c.128G>C, p.Phe>Tyr, c.638G>A, p.Arg>Gln and c.653G>A, p.Arg>His). Based on the results, among the three non-synonymous mutations, the c.128G>C mutation which resulting in the replacement of Phe with Tyr amino acid could affect the functional performance of MC1R protein and this substitution might cause the color variation in this breed. In addition, the c.128G>C was observed in single phenotype. However, the two SNPs at position 638 and 653 led to substitution of two amino acids in MC1R, but these mutations didnot influence on MC1R performance. Therefore, our results suggest that the mutations of ovine MC1R gene could be associated with coat color phenotype in Lori-Bakhtiari sheep.

Keywords

References

  1. Abdel-Malek, Z. A. )2001(. Melanocortin Receptors: Their functions and regulation by physiological agonists and antagonists. Cellular and Molecular Life Sciences, 58, 434-441.
  2. Bennett, D. C. & Lamoreux, M. L. (2003). The Color Loci of Mice-A Genetic Century. Pigment Cell Society, 16, 333-344.
  3. Chen, S. Y., Huang, Yi., Qing, Z., Fontanesi, L., Yong-Gang, Y. & Ping Liu, Y.  (2009). Sequence characterization of the MC1R gene in Yak (Poephagus grunniens) breeds with different coat colors. Journal of Biomedicine and Biotechnology, 861046
  4. Deng, W. D., Shu, W., Yang, S. L., Shi, X. W. & Mao, H. M. (2009). Pigmentation in Black-boned sheep (Ovis aries): association with polymorphism of the MC1R gene. Molecular Biology Reports, 36, 431-436.
  5. Fontanesi, L., Tazzoli, M., Beretti, F. & Russo, V. (2006). Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colours in the domestic rabbit (Oryctolagus cuniculus). Animal genetics, 37(5), 489-493.
  6. Fontanesi, L., Beretti, F., Riggio, V., Dall'Olio, S., Gonzalez, E. G. & Finocchiaro, R. (2009). Missense and nonsense mutations in melanocortin 1 Receptor (MC1R) gene of different goat breeds: association with red and black coat colour phenotypes but with unexpected evidences. Bio Med Central Genetics, 10, 47.
  7. Fontanesi, L., Beretti, F., Riggio, V., Calascibetta, D., Russo, V. & Portolano, B. (2010). Sequence characterization of the melanocortin 1 receptor (MC1R) gene in sheep with different coat colors and identification of the putative e allele at the ovine extension locus. Small Ruminant Research, 91, 200-207.
  8. Fontanesi, L., Dall'Olio, S., Beretti, F., Portolano, B. & Russo, V. )2011(. Coat Colours in the Massese sheep breed are associated with mutations in The Agouti signaling protein (ASIP) and melanocortin 1 receptor (MCIR) genes. The Animal Consortium, 5, 8-17.
  9. Fontanesia, L., Rustempa, A., Brkab, M. & Russoa, V. (2012) Analysis of polymorphisms in the agouti signaling protein (ASIP) and melanocortin 1 receptor (MC1R) genes and association with coat colours in two Pramenka sheep types. SmallRuminant Research, 97:37-45
  10. Goncalves, G. L., Hoekstra, H. E. & Freitas, T. R. (2012). Striking coat colour variation in tuco‐tucos (Rodentia: Ctenomyidae): a role for the melanocortin‐1 receptor?. Biological Journal of the Linnean Society, 105(3), 665-680.
  11. Hepp, D., Gonçalves, G. L., Moreira, G. R., Freitas, T. R., Martins, C. T., Weimer, T. A. & Passos, D. T. (2012). Identification of the e allele at the Extension locus (MC1R) in Brazilian Creole sheep and its role in wool color variation. Genetics and Molecular Research, 11(3), 2997-3006.
  12. Javanmard, A., Arafnajad, B., Arpanahi, R. A. & Moradi, M. H. (2015). Polymorphisms in Melanocorn Receptor 1 Gene in Goat Breeds: A window for coat color controlling mechanism. Iranian Journal of Applied Animal Science, 5(4), 889-895.
  13. Klungland, H. & Vage, D. I. (2000). Molecular genetics of pigmentation in domestic animals. Current Genomics, 1(3), 223-242.
  14. Long Wu, Z., Li, X. L., Liu, Y. Q., Gong, Y. F., Liu, Z. Z., Wang, X. J., Xin, T. R. & Ji, Q. )2006(. The red head and neck of Boer goats may be controlled by recessive allele of the MC1R gene. Animal Research, 55, 313-322.
  15. Liu, R., Jin, L., Long, K., Chai, J., Ma, J., Tang, Q., Tian, S., Hu, Y., Lin, L., Wang, X. & Jiang, A. (2016). Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC1R) gene in Tibetan pigs and Landrace pigs. Gene, 575(2), 537-542.
  16. Marklund, L., Moller, M. J., Sandberg, K. & Andersson, L., 1996. A missense mutation in the gene for melanocyte-stimulating hormone receptor (MCIR) is associated with the chestnut coat color in horses. Mammalian Genome, 7(12), 895-899.
  17. Mohammadabadi, M. R. & Sataimokhtari, R. (2013) Estimation of (Co) variance components of ewe productivity traits in kermani sheep. Slovak Journal of Animal Science, 46, 45-511.
  18. Royo, L. J., Alvarez, I., Arranz, J. J., Fernandez, I., Rodriguez, A., Perez‐Pardal, L. & Goyache, F. (2008). Differences in the expression of the ASIP gene are involved in the recessive black coat colour pattern in sheep: evidence from the rare Xalda sheep breed. Animal genetics, 39(3), 290-293.
  19. Searle, A. G. (1968). Comparative genetics of coat colour in mammals. Mammalian Genome, 19(1), 394-397.
  20. Schibler, L., Vaiman, D., Oustry, A., Giraud-Delville, C. & Cribiu, E. P. )1998(. Comparative gene mapping: A Fine-Scale survey of chromosome rearrangements between ruminants and humans. Genome Research, 8, 901-915.
  21. Schork, N. J., Fallin, D. & Lanchbury, S. (2000) Single nucleotide polymorphisms and the future of genetic epidemiology. Clinical Genetics, 58, 250-264
  22. Traore, A., Royo, L. J., Kabore, A., Perez-Pardal, L., Alvarez, I., Fernandez, I. & Goyache, F. (2012). Allelic and genotypic frequencies of ASIP and MC1R genes in four West African sheep populations. African Journal of Biotechnology, 11(78), 14287-14291.
  23. Vage, D. I., Klungland, H., Lu, D. & Cone, R. D. (1999(. Molecular and pharmacological characterization of dominant black coat color in sheep. Mammalian Genome, 10, 39-43.
  24. Vage, D. I., Fleet, M. R., Ponz, R., Olsen, R. T., Monteagudo, L. V., Tejedor, M. T. & Klungland, H. (2003). Mapping and characterization of the dominant black colour locus in sheep. Pigment Cell Research, 16(6), 693-697.
  25. Yang, G. L., Fu, D. L., Lang, X., Yan, Y. F. & Luo, Y. Z. (2014). Genetic variation of 5 SNPs of MC1R gene in Chinese indigenous sheep breeds. Russian Journal of Genetics, 50(10), 1048-1059.

 

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History

  • Receive Date: 01 February 2016
  • Revise Date: 29 August 2016
  • Accept Date: 28 February 2017

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