蒙古马酪氨酸关联蛋白（TYRP）基因多态性与毛色表型相关性研究.doc

蒙古马酪氨酸关联蛋白1（TYRP1）基因多态性与毛色表型相关性研究 蒙古马酪氨酸关联蛋白 1（TYRP1）基因多态性与毛色表型相关性研究#李蓓，芒来**510152025303540（内蒙古农业大学动物科学学院，呼和浩特 010018）摘要：为了探讨蒙古马的毛色与酪氨酸关联蛋白 1（TYRP1）基因的相关性及其作用机制，本研究采用 PCR-SSCP 技术及实时荧光定量 PCR 技术对 5 个类群蒙古马及三河马和纯血马的 TYRP1 基因多态性以及不同毛色蒙古马皮肤组织 TYRP1 基因的相对表达量进行了检测，并对多态位点与毛色性状之间的相关性进行了分析。结果表明蒙古马 TYRP1 基因在第二外显子处发生碱基错义突变（C→T）,该突变导致出现 B/B 及 B/Bb 两种基因型。群体遗传学分析表明，在黑色毛、骝色毛及栗色毛中，等位基因 B 对 Bb 为优势基因；荧光定量 PCR结果显示：TYRP1 基因在蒙古马栗色皮肤组织中表达量最高，在灰色皮肤组织中的表达量最低。根据结果推测 TYRP1 基因与毛色的深浅及有色毛的形成有关。关键词：蒙古马；TYRP1 基因；多态性；基因表达中图分类号：S821.2The study on the polymorphism of Tyrosinase-relatedProtein 1 TYRP1 gene with coat color phenotype inMongolian HorseLI Bei, Dugarjaviin Manglai College of Animal Science ,Inner Mongolia Agricultural University, Hohhot 010018 Abstract: In order to discuss the relationship between TYRP1 gene and phenotype of horse’s coatcolor. In the study, the TYRP1 gene polymorphism were detected by PCR-SSCP in 3 breedswhich included the Mongolian horse 5 groups , Sanhe horse and Thoroughbred ,the relativeexpression quantity in different colors skin of Mongolian horse were analyzed by Real-timequantitative PCR. The correlation between the polymorphism and coat color trait were analyzed.The results showed that the TYRP1 gene of Inner Mongolian horse has a missense mutation C→T in exon 2 and two genotypes B/B and B/Bb were detected. According to the analyzedresults of population genetics, The expression level of TYRP1 gene was highest in chestnut skinand lowest in gray skin was detected by Real-time quantitative PCR. The results indicated that theTYPR1 gene is mainly related with colour deep or light and coloured coat formation.Keywords: Mongolian Horse; TYRP1 Gene; Polymorphism; Gene expression0 引言哺乳动物毛色是由黑色素的有无所决定，黑色素存在于黑素细胞胞质中的黑素体中，是酪氨酸或有关成份在相应酶的催化下氧化而成的，分为褐黑色素和真黑色素[1. 2]。酪氨酸酶关联蛋白基因家族共包含三个成员：酪氨酸酶（TYR）、酪氨酸关联蛋白 1（TYRP1）和酪氨酸酶关联蛋白 2（TYRP2）。TYRP1 为 5，6-二羟基吲哚酸（5，6-Dihydroxyindole-2-carboxylicAcid，DHICA）氧化酶。黑色素的合成是一个由酪氨酸酶催化体内酪氨酸羟化而启动的一系列生化反应，体内酪氨酸在酪氨酸酶催化下生成多巴，多巴进一步