獭兔Tyr基因部分外显子多态性分析

Analysis of some polymorphic exons of the Tyr gene in Rex rabbits

Tyr基因编码的酪氨酸酶(TYR)是黑色素形成过程中的限速酶,在黑色素的生物合成过程中催化特定的反应,从而影响动物的毛色。本试验通过基因序列扩增测序,检测了白色獭兔、青紫蓝獭兔Tyr基因第1、第2和第5外显子的多态性。结果显示:獭兔Tyr基因第1,第5外显子未检测出多态位点。在第2外显子发现2个多态位点:SNP1(885 G>A),SNP2(886 A>C),SNP1为同义突变,SNP2为有义突变。研究表明Tyr基因突变可能与獭兔毛色有关联,但是该突变位点可能影响毛色变异的分子机理需进行一系列更加深入的研究。

Tyrosinase encoded by the Tyr gene is a rate-limiting enzyme in the process of melanin formation, which catalyzes a specific reaction in the process of melanin synthesis, thus affecting the fur color of animals. In this experiment, gene sequence amplification and sequencing were used to identify the polymorphism of exons 1, 2 and 5 of the Tyr gene in blue beaver Rex rabbits and white Rex rabbits. The results showed that no polymorphic locus was detected in exon 1 or exon 5 of Tyr, but two polymorphic loci were found in exon 2 of the gene: SNP1(885 G>A) and SNP2(886 A>C). SNP1 was in synonymous mutation, while SNP2 was in sense mutation. The present study indicated that Tyr mutation might be related to the coat color of Rex rabbits, but the molecular mechanism of the mutation requires further studies.