Liu Zhengzhu, Gong Yuanfang, Feng Minshan, Duan Lingxin, Li Yingjie, Li Xianglong
Hebei Key Laboratory of Veterinary Preventive Medicine, College of Animal Science and Technology, Hebei Normal University of Science & Technology, 066004, Qinhuangdao, China.
Vet Dermatol. 2016 Jun;27(3):135-e36. doi: 10.1111/vde.12303. Epub 2016 Apr 12.
The melanocortin 1 receptor (MC1R) gene plays an important role in the control of coat colour in mammals. Genetic variation of the MC1R gene and the relationship between genotype and coat colour are not well understood. Studies in the fox may improve our understanding of gene influence on coat colour in dogs and cats.
HYPOTHESIS/OBJECTIVES: To investigate coat colour associated mutations in the coding region of MC1R gene in foxes.
A total of 118 foxes, comprising 70 red foxes (Vulpes vulpes) (19 red, 10 white silver, 29 silver and 12 chocolate foxes) and 48 arctic foxes (Vulpes lagopus) (9 dominant white blue foxes and 39 normal blue foxes) were included in the study.
Evaluation of the DNA sequence of the coding region of MC1R gene and its polymorphisms.
Eight polymorphic sites (single nucleotide polymorphisms, SNPs) distributed throughout the 954-bp coding region of the fox MC1R gene were detected. Among them, c.13G>T, c.124A>G, c.289G>A, c.373T>C and c.839 T>G were mis-sense mutations, which resulted in codon change of p.G5C, p.N42D, p.V97I, p.C125R and p.F280C, respectively. Mutation and haplotype analysis indicated that c.373T>C was associated with black and brown pigmented phenotypes in foxes, and c.13G>T and c.839T>G were important in distinguishing V. lagopus and V. vulpes.
SNP c.373T>C in the coding region of the MC1R gene is probably associated with the brown phenotype of chocolate foxes.
黑皮质素1受体（MC1R）基因在哺乳动物毛色控制中起重要作用。MC1R基因的遗传变异以及基因型与毛色之间的关系尚未完全明确。对狐狸的研究可能会增进我们对基因对犬猫毛色影响的理解。
假设/目的：研究狐狸MC1R基因编码区与毛色相关的突变。
本研究共纳入118只狐狸，包括70只赤狐（赤狐属赤狐）（19只红色、10只白狐、29只银狐和12只巧克力狐）和48只北极狐（北极狐属北极狐）（9只显性白色蓝狐和39只普通蓝狐）。
评估MC1R基因编码区的DNA序列及其多态性。
在狐狸MC1R基因954 bp的编码区共检测到8个多态性位点（单核苷酸多态性，SNPs）。其中，c.13G>T、c.124A>G、c.289G>A、c.373T>C和c.839T>G为错义突变，分别导致密码子p.G5C、p.N42D、p.V97I、p.C125R和p.F280C的改变。突变和单倍型分析表明，c.373T>C与狐狸的黑色和棕色表型相关，c.13G>T和c.839T>G在区分北极狐和赤狐中起重要作用。
MC1R基因编码区的SNP c.373T>C可能与巧克力狐的棕色表型相关。
