Wu Xiaoqian, Tan Zhendong, Shen Linyuan, Yang Qiong, Cheng Xiao, Liao Kun, Bai Lin, Shuai Surong, Li Mingzhou, Li Xuewei, Zhang Shunhua, Zhu Li
College of Animal Science and Technology, Sichuan Agricultural University, Chengdu 611130, China.
Department of Animal Husbandry and Veterinary Medicine, Chengdu Agricultural College, Chengdu 611130, China.
Asian-Australas J Anim Sci. 2017 Jul;30(7):938-943. doi: 10.5713/ajas.16.0376. Epub 2016 Dec 17.
Qingyu pig, a Chinese indigenous pig breed, exhibits two types of coat colour phenotypes, including pure black and white with black spotting respectively. Melanocortin receptor 1 () and agouti signaling protein () are two widely reported pivotal genes that significantly affect the regulation of coat colour. The objectives of this study were to investigate whether the polymorphisms of these two genes are associated with coat colour and analyze the molecular mechanism of the coat colour separation in Qingyu pig.
We studied the phenotype segregation and used polymerase chain reaction amplification and Sanger sequencing to investigate the polymorphism of and in 121 Qingyu pigs, consisting of 115 black and 6 white with black spotted pigs.
Coat colour of Qingyu pig is associated with the polymorphisms of but not . We only found 2 haplotypes, and , based on the 13 observed mutations from gene. Among which, presented a recessive inheritance mode in black spotted Qingyu pigs. Further analysis revealed a insertion that caused a frameshift mutation and a premature stop codon, thus changed the first transmembrane domain completely and lost the remaining six transmembrane domains. Altogether, our results strongly support that the variety of Qingyu pig's coat colour is related to .
Our findings indicated that black coat colour in Qingyu pig was dominant to white with black spotted phenotype and gene polymorphism was associated with coat colour separation in Qingyu pig.
青峪猪是中国地方猪种，表现出两种毛色表型，分别为纯黑色和白色带黑斑。黑皮质素受体1（）和刺鼠信号蛋白（）是两个广泛报道的对毛色调控有显著影响的关键基因。本研究的目的是调查这两个基因的多态性是否与毛色相关，并分析青峪猪毛色分离的分子机制。
我们研究了表型分离情况，并使用聚合酶链反应扩增和桑格测序法，对121头青峪猪（其中115头黑色猪和6头白色带黑斑猪）的和基因多态性进行了调查。
青峪猪的毛色与基因的多态性有关，而与基因无关。基于从基因观察到的13个突变，我们仅发现了2种单倍型，即和。其中，在带黑斑的青峪猪中呈现隐性遗传模式。进一步分析发现一个插入，导致移码突变和提前终止密码子，从而完全改变了第一个跨膜结构域，并失去了其余六个跨膜结构域。总之，我们的结果有力地支持了青峪猪毛色的多样性与基因有关。
我们的研究结果表明，青峪猪的黑色毛色对白色带黑斑表型呈显性，且基因多态性与青峪猪的毛色分离有关。
