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Asian-Australas J Anim Sci > Accepted Articles
DOI: https://doi.org/10.5713/ajas.18.0819    [Accepted] Published online February 7, 2019.
Sequence characterization and polymorphism of Melanocortin 1 receptor gene in some goat breeds with different coat color of Mongolia
Onolragchaa Ganbold1  , Prabuddha Manjula1  , Seung Hwan Lee1  , Woon Kee Paek2, Dongwon Seo1  , Munkhbaatar Munkhbayar3, Jun Heon Lee1,* 
1Division of Animal & Dairy Science, Chungnam National University, Daejeon 34134, Korea
2Division of Research and Promotion, National Science Museum of Korea, Daejeon 34143, Korea
3Department of Biological Science, Mongolian National University of Education, Ulaanbaatar 210685, Mongolia
Correspondence:  Jun Heon Lee, Tel: +82-42-821-5779, Fax: +82-42-825-9754, Email: junheon@cnu.ac.kr
Received: 30 October 2018   • Revised: 5 December 2018   • Accepted: 8 January 2019
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, exhibits diverse types of coat color phenotypes. In this study, investigation of the MC1R coding region in different coat colors in Mongolian goats has performed to ascertain the presence of the Extension allele. Method: A total of 105 goat samples that 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 (GGS: complete black, ZJTs: complete white, MNG: admixture of different of coat colors). The genotypes of these goats were obtained from analyzing and comparing the sequencing results.


A total of seven haplotypes that defined by five substitution were identified. Five single nucleotide polymorphisms (SNPs) were 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 (x2) 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, the majority of investigated goats (60.4%) belong to H2 (TGAGT) haplotype.
According to the findings obtained in the investigated coat colors, mutations in MC1R gene may have the crucial role for determining eumelanin and pheomelanin phenotypes in this study. Due to the complication of coat color phenotype, more detailed investigation needed.
Keywords: Coat Color; MC1R; Missense Mutation; Mongolian Goat

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