title: The role of MC1R gene in buffalo coat color.
abstract: 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.
authors.affiliation: Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming, China.
authors.forename: YongWang
authors.initials: Y
authors.lastname: Miao
authors.forename: GuiSheng
authors.initials: G
authors.lastname: Wu
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
authors.forename: DaLin
authors.initials: D
authors.lastname: Li
authors.forename: ShouKun
authors.initials: S
authors.lastname: Tang
authors.forename: JianPing
authors.initials: J
authors.lastname: Liang
authors.forename: HuaMing
authors.initials: H
authors.lastname: Mao
authors.forename: HuaiRong
authors.initials: H
authors.lastname: Luo
authors.forename: YaPing
authors.initials: Y
authors.lastname: Zhang
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D002020:Buffaloes / Q000235:genetics* / Q000378:metabolism; D005838:Genotype; D006200:Hair Color / Q000235:genetics*; D006720:Homozygote; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics* / Q000378:metabolism
chemical_list: D044102:Receptor, Melanocortin, Type 1