Melanocortin 1 receptor (MC1R) gene polymorphism and its association with coat colour patterns in Nagpuri and Purnathadi buffaloes

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Madhuri Kamble Shailendra Vasantrao Kuralkar Syed Sajid Ali Pravin Suryakant Bankar Prajakta Kuralkar Shyam Ganesh Deshmukh


Melanin is the pigment of skin (coat) and hairs in all mammals. The 954 bp long MC1R gene codes for the production of MC1R or the α-MSH receptors which are present on the melanosomes. These receptors regulate the synthesis of melanin pigments viz., eumelanin or phaeomelanin leading to black and reddish to yellowish pigmentations respectively. PCR-RFLP analysis of 138 bp region of MC1R gene was conducted in two buffalo populations having distinct coat colours; Nagpuri (black) and Purnathadi (whitish). Three genotypes, EDED, EDE* and E*E* were observed at frequencies of 0.86, 0.03 and 0.11 for Nagpuri and 0.74, 0.08 and 0.18 in Purnathadi buffaloes; similarly the observed gene frequencies for ED and E* alleles were 0.87, 0.13 and 0.78, 0.22 in Nagpuri and Purnathadi buffaloes, respectively. DNA-sequencing revealed a transition mutation (A→G) at 118 bp locus confirming polymorphism, however presence in both the population failed to point towards any specific role in body coat colour of buffaloes.


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KAMBLE, Madhuri et al. Melanocortin 1 receptor (MC1R) gene polymorphism and its association with coat colour patterns in Nagpuri and Purnathadi buffaloes. Buffalo Bulletin, [S.l.], v. 41, n. 3, p. 531-536, sep. 2022. ISSN 2539-5696. Available at: <>. Date accessed: 02 dec. 2022.
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Ali, S. Sajid., S.V. Kuralkar, M.V. Ingawale, S.P. Waghmare, S.J. Manwar, R.S. Kataria and V. Vohra. 2019. Phenotypic characterization, management, and socio-economic impact of Purnathadi buffaloes. Indian J. Anim. Sci., 89(10): 260.

Deng, W.D., W. Shu, S.L. Yang, X.W. Shi and H.M. Mao. 2009. Pigmentation in Black-boned sheep (Ovis aries): Association with polymorphism of the MC1R gene. Mol. Biol. Rep., 36(3): 431-436. DOI: 10.1007/s11033-007-9197-9a

Guastella, A.M., S. Sorbolini, A. Zuccaro, E. Pintus, S. Bordonaro, D. Marletta and N.P.P. Macciotta. 2011. Melanocortin 1 receptor (MC1R) gene polymorphisms in three Italian cattle breeds. Anim. Prod. Sci., 51(11): 1039-1043.

Kijas, J.M.H., R. Wales, A. Tornsten, P. Chardon, M. Moller and L. Andersson. 1998. Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. Genetics, 150(3): 1177-1185. DOI: 10.1093/genetics/150.3.1177

Klungland, H., D.I. Vage, L. Gomez-Raya, S. Adalsteinsson and S. Lien. 1995. The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination. Mamm. Genome, 6(9): 636-639. DOI: 10.1007/BF00352371

Kumar, S., G. Stecher, M. Li, C. Knyaz and K. Tamura. 2018. MEGA X: Molecular evolutionary genetics analysis across computing platforms. Mol. Biol. Evol., 35(6): 1547-1549. DOI: 10.1093/molbev/msy096

Larkin, M.A., G. Blackshields, N.P. Brown, R. Chenna, P.A. McGettigan, H. McWilliam, F. Valentin, I.M. Wallace, A. Wilm, R. Lopez, J.D. Thompson, T.J. Gibson and D.G. Higgins. 2007. Clustal W and Clustal X version 2.0. Bioinformatics, 23(21): 2947-2948. DOI: 10.1093/bioinformatics/btm404

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(12): 895-899. DOI: 10.1007/s003359900264

Miao, Y.W., G.S. Wu, L. Wang, D.L. Li, S.K. Tang, J.P. Liang and Y.P. Zhang. 2010. The role of MC1R gene in buffalo coat color. Science China Life Sciences, 53(2): 267-272. DOI: 10.1007/s11427-010-0026-3

Russo, V., L. Fontanesi, E. Scotti, M. Tazzoli, S. Dall’Olio and R. Davoli. 2007. Analysis of melanocortin 1 receptor (MC1R) gene polymorphisms in some cattle breeds: their usefulness and application for breed traceability and authentication of Parmigiano Reggiano cheese. Ital. J. Anim. Sci., 6(3): 257-272. DOI: 10.4081/ijas.2007.257

Sasazaki, S., M. Usui, H. Mannen, C. Hiura and S. Tsuji. 2005. Allele frequencies of the extension locus encoding the melanocortin-1 receptor in Japanese and Korean cattle. Anim. Sci. J., 76(2): 129-132. DOI: 10.1111/j.1740-0929.2005.00247.x

Searle, A.G. 1968. Comparative Genetics of Coat Colour in Mammals, Logos Press, London, UK.

Takeuchi, S., H. Suzuki, M. Yabuuchi and S. Takahashi. 1996. A Possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the chicken. Gene Structure and Expression, 1308(2): 164-168. DOI: 10.1016/0167-4781(96)00100-5

Wu, Z.L., X.L. Li, Y.Q. Liu, Y.F. Gong, Z.Z. Liu, X.J. Wang and Q. Ji. 2006. The red head and neck of Boer goats may be controlled by the recessive allele of the MC1R gene. Anim. Res., 55(4): 313-322. DOI: 10.1051/animres:2006020