The role of MC1R gene in buffalo coat color

Melanocortin-1 receptor (MC1R) plays a major role in pigmentation in many species. To investigate if the MC1R gene is associated with coat color in water buffalo, the coding region of MC1R gene of 216 buffalo samples was sequenced, which included 49 black river buffalo (Murrah and Nili-Ravi), 136 swamp buffalo (Dehong, Diandongnan, Dechang, Guizhou, and Xilin) with white and gray body, and 31 hybrid offspring of river buffalo Nili-Ravi (or Murrah) and swamp buffalo. Among the three variation sites found, SNP684 was synonymous, while SNP310 and SNP384 were nonsynonymous, leading to p.S104G and p.I128M changes, respectively. Only Individuals carrying homozygote E-BR/E-BR were black. The genotype and phenotype analysis of the hybrid offspring of black river buffalo and gray swamp buffalo further revealed that the river buffalo type allele E-BR or the allele carrying the amino acid p.104S was important for the full function of MC1R. The in silico functional analysis showed that the amino acid substitutions p.G104S and p.M128I had significant impact on the function of MC1R. Above results indicate that the allele E-BR or the allele carrying the amino acid p.104S was associated with the black coat color in buffalo.

This study was supported by National Basic Research Program grants from the Ministry of Science and Technology of China (G2003CB515400, 2009CB522000, and 2009ZX09301-001 to J.-G. L.; and 2006CB500808 to L. X.), the National Science Fund for Distinguished Young Scholars from the National Natural Science Foundation of China (30425002 to J.-G. L.), the National Science Fund of China (30873050 to J.-G. L., 30530250 to L. X.) and a grant from the Chinese Academy of Sciences (KSCXI/YW/R/68 to J.-G. L. and L. X.).