Abstract
The melanocortin receptor 1 (MC1R) plays a central role in regulation of animal coat color formation. In this study, we sequenced the complete coding region and parts of the 5′- and 3′-untranslated regions of the MC1R gene in Chinese sheep with completely white (Large-tailed Han sheep), black (Minxian Black-fur sheep), and brown coat colors (Kazakh Fat-Rumped sheep). The results showed five single nucleotide polymorphisms (SNPs): two non-synonymous mutations previously associated with coat color (c.218 T>A, p.73 Met>Lys. c.361 G>A, p.121 Asp>Asn) and three synonymous mutations (c.429 C>T, p.143 Tyr>Tyr; c.600 T>G, p.200 Leu>Leu. c.735 C>T, p.245 Ile>Ile). Meanwhile, all mutations were detected in Minxian Black-fur sheep. However, the two nonsynonymous mutation sites were not in all studied breeds (Large-tailed Han, Small-tailed Han, Gansu Alpine Merino, and China Merino breeds), all of which are in white coat. A single haplotype AATGT (haplotype3) was uniquely associated with black coat color in Minxian Black-fur breed (P = 9.72E − 72, chi-square test). The first and second A alleles in this haplotype 3 represent location at 218 and 361 positions, respectively. Our results suggest that the mutations of MC1R gene are associated with black coat color phenotype in Chinese sheep.
Highlights
Animal coloration is an ideal model for studying the genetic mechanisms that determine phenotype [1]
The Agouti locus encodes for the agouti signalling protein (ASIP) [3], a small paracrine signaling molecule that interacts with the product of the Extension locus
The results showed that five single nucleotide polymorphisms (SNPs), two nonsynonymous mutations previously associated with coat color
Summary
Animal coloration is an ideal model for studying the genetic mechanisms that determine phenotype [1]. Coat color in domestic animals is one of the most strikingly variable and visible traits and has been widely used as a unique phenotype in the morphological selection for breed identification and attribution. In a large number of mammalian species, the coat color diversity is mainly determined by the relative amount of two basic melanins, eumelanin (black/brown), and pheomelanin (yellow/red), which are genetically controlled by the Extension (E) and Agouti (A) loci, respectively [2]. Studies of MC1R have provided valuable insights into the biology of pigmentation and the evolution of domesticated animals [15, 16]
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