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Sequence characterization and polymorphism of melanocortin 1 receptor gene in some goat breeds with different coat color of Mongolia

  • Ganbold, Onolragchaa (Division of Animal and Dairy Science, Chungnam National University) ;
  • Manjula, Prabuddha (Division of Animal and Dairy Science, Chungnam National University) ;
  • Lee, Seung-Hwan (Division of Animal and Dairy Science, Chungnam National University) ;
  • Paek, Woon Kee (Division of Research and Promotion, National Science Museum of Korea) ;
  • Seo, Dongwon (Division of Animal and Dairy Science, Chungnam National University) ;
  • Munkhbayar, Munkhbaatar (Department of Biological Science, Mongolian National University of Education) ;
  • Lee, Jun Heon (Division of Animal and Dairy Science, Chungnam National University)
  • Received : 2018.10.30
  • Accepted : 2019.01.08
  • Published : 2019.07.01

Abstract

Objective: Extension and Agouti loci play a key role for proportions of eumelanin and pheomelanin in determining coat color in several species, including goat. Mongolian goats exhibit diverse types of coat color phenotypes. In this study, investigation of the melanocortin 1 receptor (MC1R) coding region in different coat colors in Mongolian goats was performed to ascertain the presence of the extension allele. Methods: A total of 105 goat samples representing three goat breeds were collected for this study from middle Mongolia. A 938 base pair (bp) long coding region of the MC1R gene was sequenced for three different breeds with different coat colors (Gobi Gurwan Saikhan: complete black, Zalaa Jinstiin Tsagaan: complete white, Mongolian native goat: admixture of different of coat colors). The genotypes of these goats were obtained from analyzing and comparing the sequencing results. Results: A total of seven haplotypes defined by five substitution were identified. The five single nucleotide polymorphisms included two synonymous mutations (c.183C>T and c.489G>A) and three missense (non-synonymous) mutations (c.676A>G, c.748T>G, and c.770T>A). Comparison of genotypes frequencies of two common missense mutions using chi-sqaure ($x^2$) test revealed significant differences between coat color groups (p<0.001). A logistic regression analysis additionally suggested highly significant association between genotypes and variation of black versus white uniform combination. Alternatively, most investigated goats (60.4%) belonged to H2 (TGAGT) haplotype. Conclusion: According to the findings obtained in this study on the investigated coat colors, mutations in MC1R gene may have the crucial role for determining eumelanin and pheomelanin phenotypes. Due to the complication of coat color phenotype, more detailed investigation needed.

Keywords

Coat Color;Melanocortin 1 Receptor (MC1R);Missense Mutation;Mongolian Goat

Acknowledgement

Supported by : National Science Museum of Korea

References

  1. Wilkins AS, Wrangham RW, Fitch WT. The "Domestication Syndrome" in mammals: a unified explanation based on neural crest cell behavior and genetics. Genetics 2014;197:795-808. https://doi.org/10.1534/genetics.114.165423 https://doi.org/10.1534/genetics.114.165423
  2. Cieslak M, Reissmann M, Hofreiter M, Ludwig A. Colours of domestication. Biol Rev Camb Philos Soc 2011;86:885-99. https://doi.org/10.1111/j.1469-185X.2011.00177.x https://doi.org/10.1111/j.1469-185X.2011.00177.x
  3. Fontanesi L, Beretti F, Riggio V, et al. Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: association with red and black coat color phenotypes but with unexpected evidences. BMC Genet 2009;10:47. https://doi.org/10.1186/1471-2156-10-47
  4. Fontanesi L, Beretti F, Riggio V, et al. 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 Rumin Res 2010;91:200-7. https://doi.org/10.1016/j.smallrumres.2010.03.015 https://doi.org/10.1016/j.smallrumres.2010.03.015
  5. Chandramohan B, Renieri C, La Manna V, La Terza A. The alpaca agouti gene: genomic locus, transcripts and causative mutations of eumelanic and pheomelanic coat color. Gene 2013;521:303-10. https://doi.org/10.1016/j.gene.2013.03.060 https://doi.org/10.1016/j.gene.2013.03.060
  6. Robbins LS, Nadeau JH, Johnson KR, et al. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 1993;72:827-34. https://doi.org/10.1016/0092-8674(93)90572-8 https://doi.org/10.1016/0092-8674(93)90572-8
  7. Valverde P, Healy E, Jackson I, Rees JL, Thody AJ. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet 1995;11:328-30. https://doi.org/10.1038/ng1195-328 https://doi.org/10.1038/ng1195-328
  8. Vage DI, Klungland H, Lu D, Cone RD. Molecular and pharmacological characterization of dominant black coat color in sheep. Mamm Genome 1999;10:39-43. https://doi.org/10.1007/s003359900939 https://doi.org/10.1007/s003359900939
  9. Klungland H, Vage DI, Gomez-Raya L, Adalsteinsson S, Lien S. The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination. Mamm Genome 1995;6:636-9. https://doi.org/10.1007/BF00352371 https://doi.org/10.1007/BF00352371
  10. Kijas JM, Wales R, Tornsten A, Chardon P, Moller M, Andersson L. Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. Genetics 1998;150:1177-85.
  11. Marklund L, Moller MJ, Sandberg K, Andersson L. A missense mutation in the gene for melanocyte-stimulating hormone receptor (MCIR) is associated with the chestnut coat color in horses. Mamm Genome 1996;7:895-9. https://doi.org/10.1007/s003359900264
  12. Newton JM, Wilkie AL, He L, et al. Melanocortin 1 receptor variation in the domestic dog. Mamm Genome 2000;11:24-30. https://doi.org/10.1007/s003350010005
  13. Vage DI, Lu D, Klungland H, Lien S, Adalsteinsson S, Cone RD. A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes. Nat Genet 1997;15:311-5. https://doi.org/10.1038/ng0397-311 https://doi.org/10.1038/ng0397-311
  14. Fontanesi L, Tazzoli M, Beretti F, Russo V. Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colors in the domestic rabbit (Oryctolagus cuniculus). Anim Genet 2006;37:489-93. https://doi.org/10.1111/j.1365-2052.2006.01494.x https://doi.org/10.1111/j.1365-2052.2006.01494.x
  15. NSO: National Statistics Office of Mongolia. NSO; 2017 [cited 2018 May 29]. Available from: http://www.1212.mn/tables.aspx?TBL_ID=DT_NSO_1001_021V1
  16. Ganbold O, Lee SH, Dongwon S, et al. A review of population genetics research on domestic animals in Mongolia and recommendations for the improvements. J Anim Breed Genom 2018;2:9-20. https://doi.org/10.12972/jabng.20180016
  17. Wu ZL, Li XL, Liu YQ, et al. The red head and neck of Boer goats may be controlled by the recessive allele of the MC1R gene. Anim Res 2006;55:313-22. https://doi.org/10.1051/animres:2006020 https://doi.org/10.1051/animres:2006020
  18. Yang GL, Fu DL, Lang X, et al. Mutations in MC1R gene determine black coat color phenotype in Chinese sheep. Sci World J 2013;2013:Article ID 675382 http://dx.doi.org/10.1155/2013/675382
  19. Sandanjamts D. Minjigdorj B: Registered livestock breeds in Mongolia. 2016 [cited 2018 May 22]. Available from: https://issuu.com/secimc2/docs/livestock_breeds_in_mongolia_album (In Mongolian)
  20. Klungland H, Roed KH, Neo CL, Jakobsen KS, Vage DI. The melanocyte-stimulating hormone receptor (Mci-R) gene as a tool in evolutionary studies of artiodactyles. Hereditas 1999; 131:39-46. https://doi.org/10.1111/j.1601-5223.1999.00039.x
  21. Hall TA. BioEdit: a user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucleic Acids Symposium Series. Oxford, UK: Oxford University Press; 1999. No. 41 pp 95-8.
  22. Thompson JD, Higgins DG, Gibson TJ. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 1994;22:4673-80. https://doi.org/10.1093/nar/22.22.4673 https://doi.org/10.1093/nar/22.22.4673
  23. Librado, P, Rozas J. DnaSP v5: Software for comprehensive analysis of DNA polymorphism data. Bioinformatics 2009;25:1451-2. https://doi.org/10.1093/bioinformatics/btp187 https://doi.org/10.1093/bioinformatics/btp187
  24. Tamura K, Nei M. Estimation of the number of nucleotide substitutions in the control region of mitochondrial DNA in humans and chimpanzees. Mol Biol Evol 1993;10:512-26. https://doi.org/10.1093/oxfordjournals.molbev.a040023
  25. Kumar S, Stecher G, Tamura K. MEGA7: Molecular evolutionary genetics analysis version 7.0 for bigger datasets. Mol Biol Evol 2016;33:1870-4. https://doi.org/10.1093/molbev/msw054 https://doi.org/10.1093/molbev/msw054
  26. Bandelt HJ, Forster P, Rohl A. Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol 1999;16:37-48. https://doi.org/10.1093/oxfordjournals.molbev.a026036 https://doi.org/10.1093/oxfordjournals.molbev.a026036
  27. Choi Y, Sims GE, Murphy S, Miller JR, Chan AP. Predicting the functional effect of amino acid substitutions and indels. PLoS ONE 2012;7:e46688. https://doi.org/10.1371/journal.pone.0046688 https://doi.org/10.1371/journal.pone.0046688
  28. Omasits U, Ahrens CH, Muller S, Wollscheid B. Protter: interactive protein feature visualization and integration with experimental proteomic data. Bioinformatics 2014;30:884-6. https://doi.org/10.1093/bioinformatics/btt607 https://doi.org/10.1093/bioinformatics/btt607
  29. Robbins LS, Nadeau JH, Johnson KR, et al. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 1993;72:827-34. https://doi.org/10.1016/0092-8674(93)90572-8 https://doi.org/10.1016/0092-8674(93)90572-8
  30. Adefenwa MA, Peters SO, Agaviezor BO, et al. Identification of single nucleotide polymorphisms in the agouti signaling protein (ASIP) gene in some goat breeds in tropical and temperate climates. Mol Biol Rep 2013;40:4447-57. https://doi.org/10.1007/s11033-013-2535-1 https://doi.org/10.1007/s11033-013-2535-1
  31. Javanmard A, Arafnajad B, Arpanahi RA, Moradi MH. Polymorphisms in melanocortin receptor 1 gene in goat breeds: a window for coat color controling mechanism. Iranian J Appl Anim Sci 2015;5:889-95.
  32. Fontanesi L, Beretti F, Riggio V, et al. Copy number variation and missense mutations of the agouti signaling protein (ASIP) gene in goat breeds with different coat colors. Cytogenet Genome Res 2009;126:333-47. https://doi.org/10.1159/000268089 https://doi.org/10.1159/000268089
  33. Suhendra P, Rini W, Wayan TA et al. Copy number variation of agouti signaling protein (ASIP) fragment and its relationship with coat color in indonesian goat breeds. Asian J Anim Vet Adv 2016;11:701-8. http://dx.doi.org/10.3923/ajava.2016.701.708 https://doi.org/10.3923/ajava.2016.701.708
  34. Adalsteinsson S, Sponenberg DP, Alexieva S, Russel AJF. Inheritance of goat coat colors. J Hered 1994;85:267-72. https://doi.org/10.1093/oxfordjournals.jhered.a111454 https://doi.org/10.1093/oxfordjournals.jhered.a111454
  35. Hepp D, Goncalves GL, Moreira GRP et al. Identification of the e allele at the Extension locus (MC1R) in Brazilian Creole sheep and its role in wool color variation. Genet Mol Res 2012;11:2997-3006. https://doi.org/10.4238/2012.May.22.5 https://doi.org/10.4238/2012.May.22.5