绵羊季节性繁殖相关基因TSHR外显子多态性研究

发布时间：2018-07-03 14:46

本文选题：绵羊 + 季节性繁殖　；参考：《畜牧兽医学报》2016年07期

【摘要】：旨在研究乌珠穆沁羊与湖羊这两种具有不同繁殖性能和发情周期绵羊的促甲状腺激素受体(Thyroid stimulating hormone receptor,TSHR)基因外显子区遗传变异特性及其构建的单倍型在品种间的分布和对mRNA和蛋白质二级结构的影响,为进一步揭示其对TSHR表达调控的影响及表型效应奠定基础。本研究采用直接测序的方法对中国蒙古系2个绵羊品种共172个个体TSHR基因的遗传变异情况进行分析。共发现了6个突变位点,独立性卡方检验发现SNP1、SNP3、SNP4和SNP5 4个多态位点的基因型在两个绵羊群体间的分布存在极显著差异(P0.01),其中SNP5为错义突变,其余为同义突变;对这4个位点进行连锁不平衡分析发现,SNP3和SNP4两个位点完全连锁,其余位点两两之间存在不同程度连锁关系;生物信息学分析发现不同的单倍型使TSHR基因的mRNA二级结构发生改变,SNP5使受体蛋白的二级结构发生改变。结果提示:(1)TSHR基因外显子区存在4个在两个绵羊品种中具有潜在生物学功能和表型效应的突变位点,可组成H1~H6共6种单倍型,其中H1(CGCC)和H4(TTTG)分别在乌珠穆沁羊和湖羊群体中为优势单倍型,这可能与这两种绵羊不同的发情周期有关。(2)外显子区SNP5位点突变影响mRNA和蛋白质二级结构的稳定性,可能是具有潜在表型效应的重要功能位点。
[Abstract]:The aim of this study was to study the genetic variation in the exon region of Thyroid stimulating hormone receptor (Thyroid stimulating hormone receptor) gene and the distribution of haplotypes constructed in sheep with different reproductive performance and estrous cycle. And effects on mRNA and protein secondary structures, It provides a basis for further revealing the effect of TSHR on its expression regulation and phenotypic effects. In this study, the genetic variation of TSHR gene in 172 individuals of 2 Chinese Mongolian sheep breeds was analyzed by direct sequencing. A total of 6 mutation loci were found, and the genotypes of SNP1SNP3SNP4 and SNP5 were significantly different between the two sheep populations (P0.01), among which SNP5 was missense mutation and the rest was synonymous mutation. The linkage disequilibrium analysis of these four loci revealed that SNP3 and SNP4 were completely linked, and there were some linkage relationships between the other two loci. Bioinformatics analysis showed that different haplotypes changed the mRNA secondary structure of TSHR gene and SNP5 changed the secondary structure of receptor protein. The results showed that: (1) there were 4 mutation sites in the exon of TSHR gene which had potential biological function and phenotypic effect in two sheep breeds, which could form 6 haplotypes. Among them, H1 (CGCC) and H4 (TTTG) were dominant haplotypes in Wuzhimuqin sheep and Hu sheep, respectively, which may be related to the different estrous cycle of these two sheep. (2) the mutation of SNP5 site in exon affected the stability of mRNA and protein secondary structure. It may be an important functional site with potential phenotypic effects.
【作者单位】：甘肃农业大学动物科学技术学院;中国农业科学院北京畜牧兽医研究所;
【基金】：国家自然基金联合基金重点项目(U1503285) “十二五”863项目(2011AA100307-02)
【分类号】：S826

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