猪UCP2基因5′调控区和外显子1的遗传变异研究

Research on Genetic Variation of 5' Regulatory Region and Exon1 of UCP2 in Pigs

解偶联蛋白家族(uncouplingproteins,UCPs)是线粒体内膜的转运蛋白,具有解离氧化磷酸化偶联的功能,对机体能量平衡涉及的体重(肥胖)、静止代谢率和食物转化效率等性状具有显著的影响.首次对猪UCP2基因外显子1及开放阅读框上游部分序列(-80～0)进行了多态性分析,通过PCR-SSCP发现猪群内存在3种单倍型,经测序分析发现存在3个SNPs位点,分别位于G-42A、C-50T和T-51C位点,这3个SNPs位点均是首次发现的.该研究表明,T-C-G紧密连锁,C-T-A突变也紧密连锁.利用转录因子在线分析软件TFSEARCH(ver1.3),对UCP2基因开放阅读框上游部分序列(-80～0)进行潜在转录因子结合位点预测,发现该片段中的碱基T→C(-51)、C→T(-50)和G→A(-42)突变,导致此处比野生型单倍型A(T-C-G碱基连锁)少了一个AML-1a转录因子结合位点.内江猪存在A、B和AB三种单倍型,而其他猪种仅有单倍型A,说明内江猪具有独特的种质特性.

Uncoupling proteins （UCPs） are mitochondrial membrane transporters, acting as an uncoupler in oxidative phosphorylation. UCPs were also discovered associated with body mass index, resting metabolic rate and percentage of fat. Three haplotypes were detected by PCR-SSCP and then confirmed by DNA sequencing. For the first time, three single strand conformation polymorphisms（SNPs）, G-42A, C-50T, and T-51C, were discovered in the promoter region of the UCF2 gene in pigs. T-C-G is close linkage and C-T-A is also linkage. The potential protein factor binding sites were predicted by/ranscription factor analysis tool TFSEARCH verl.3 on line. The result clewed that three mutations, T→C（-51）, C→T（-50）, and G→A（-42） in the promoter region of the UCP2 may have some effect on the regulation of UCP2 gene transcription and regulation because those mutations increase a AML-1a site. There are three different haplotypes which are A , B and AB haplotype detected in Neijiang pig while other pig breeds have only haplotype A, suggesting Neijiang pig have specific property.