本研究以大白猪的基因组DNA为模板,通过混池测序鉴定PGRMC2基因启动子区的多态位点(SNPs),以分析该基因启动子区突变前后转录因子结合位点和Cp G岛的变化。运用生物信息学软件预测其核心启动子区域、转录因子结合及Cp G岛。结果表明:在220头大白猪个体中,检测到PGRMC2基因启动子区存在2个SNP位点,分别为C-1283 T和T-372 C。且这2个SNP均导致PGRMC2基因的转录因子结合发生改变。C-1283 T突变导致1个转录因子结合位点消失(即ASP-CYP21);T-372C突变导致1个转录因子结合位点消失(AP-1-DNA_polyme),9个新的转录因子结合位点产生(E1A-BS5、Trex/MEF3compo、E-box CS、Myo D-MCK-right、NFkappa E1site、NF-mu-E1CS、kappa-E2CS1、lambda5-site F、m TDT-site F等)。由此,推测SNPs可能对PGRMC2基因表达调控发挥重要作用。
In this study,the SNPs of PGRMC2 gene were discovered throu gh the polymerase chain reaction technique using genome DNA from 220 Large White pigs,which aimed to identify the alteration in transcription factor binding sites and Cp G island before and after the mutation in promoter.Using bioinformatics softwares to predict the promoter core region,transcription factor binding sites and Cp G island.We observed that two SNPs were found in the promoter region of PGRMC2 gene,which were C-1 283 T and T-372 C.Additionally,two SNPs could lead to alterations of transcription factor binding sites in PGRMC2 promoter:C-1 283 T can lead to disappearing of a transcription factor binding sites(ASP-CYP21);T-372 C can lead to disappearing of a transcription factor binding sites(AP-1-DNA_polyme),and produce nine transcription factor binding sites(E1ABS5 and Trex/MEF3 compo,E-box CS,Myo D-MCK-right,NF-kappa E1 site,NF-mu-E1 CS,kappa-E2 CS1,lambda5-site F,m TDT-site F,etc).In conclusion,we speculated SNPs could play an important role in regulating expression of PGRMC2 gene.