The Relationship between MC1R Mutation and Plumage Color Variation in Pigeons.

Jin-Shan Ran,Jie Jin,Peng Ren,Ye Wang,Yi-Ping Liu,Xiao-Yan You,Dan Lan,Yu-Guang Zhou

doi:10.1155/2016/3059756

Abstract

The polymorphisms of MC1R gene play a crucial role in coat color variation in mammals; however, the relationship is still unclear in pigeons. In this study, we sequenced 741 bp fragment of the MC1R for 39 individuals with five plumage color patterns (gray plumage, n = 12; black plumage, n = 9; white plumage, n = 3; spotted plumage, n = 12; red plumage, n = 3). A total of three single nucleotide polymorphisms (SNPs) were detected, including G199A, G225A, and A466G, which subsequently determined four haplotypes (H1–H4). Among them, H1 is the predominant haplotype. Association analysis revealed that H1 and H3 were significantly associated with the black plumage trait (P < 0.05), while the H4 was significantly associated with gray plumage trait (P < 0.05). Furthermore, only diplotype H1H1 was significantly associated with black and gray traits of pigeons. Collectively, our study suggested an association between genetic variation of MC1R and plumage color in pigeon.

Highlights

The coat and plumage color of mammals and birds are mainly related to the pigment distribution or proportion of eumelanin and pheomelanin [1]
The process of eumelanin synthesis is triggered by the binding of α-melanocyte stimulating hormone to MC1R [4]
Three single nucleotide polymorphisms (SNPs) (G199A, G225A, and A466G) were detected from MC1R gene: one of them was synonymous and two of them were leading to amino acid substitution (Asp67Asn and Thr156Ala)

Summary

Introduction

The coat and plumage color of mammals and birds are mainly related to the pigment distribution or proportion of eumelanin and pheomelanin [1]. The relative ratio of eumelanin and pheomelanin is regulated by melanocortin receptor-1 (MC1R) and its antagonist agouti protein [2]. MC1R encodes a seven-transmembrane domain G-protein-coupled receptor, expressed primarily in melanocytes of developing feathers and hair [3]. The process of eumelanin synthesis is triggered by the binding of α-melanocyte stimulating hormone (αMSH) to MC1R [4]. It will lead to an increase of intracellular cAMP which activates tyrosinase and catalyzes the first step of melanogenesis [5]. MC1R mutations causing a constitutively active receptor are dominant and associated with black color, while loss-of-function mutations are recessive and associated with a red/yellow phenotype [6]

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