Identification of single nucleotide polymorphisms (SNPs) in the ovine melanocortin-1 receptor (MC1R) gene in Lori-Bakhtiari sheep

The melanocortin receptor 1 (MC1R), encoded by extension locus, plays an important role in coat color variation in livestock. In this study, the 840 bp of 5′- flanking region and most part of coding sequence of ovine MC1R gene was sequenced in 15 Lori-Bakhtiari sheep with different coat colors. The results showed eight single nucleotide polymorphisms (SNPs): five synonymous mutations (c.464G.A, c.557G>C, c.635c>T, c.692C>T and c.932C>T) and three non-synonymous mutations (c.128G>C, p.Phe>Tyr, c.638G>A, p.Arg>Gln and c.653G>A, p.Arg>His). Based on the results, among the three non-synonymous mutations, the c.128G>C mutation which resulting in the replacement of Phe with Tyr amino acid could affect the functional performance of MC1R protein and this substitution might cause the color variation in this breed. In addition, the c.128G>C was observed in single phenotype. However, the two SNPs at position 638 and 653 led to substitution of two amino acids in MC1R, but these mutations didnot influence on MC1R performance. Therefore, our results suggest that the mutations of ovine MC1R gene could be associated with coat color phenotype in Lori-Bakhtiari sheep.