摘要
RNA聚合酶Ⅱ转录调节物12(MED12)是中介体复合物的一个亚基,在真核细胞中调节转录,并参与受体酪氨酸激酶、核受体和Wnt的信号通路。MED12分子的进化保守区域具有重要的转录调控功能,但是MED12基因序列上也存在突变热点,这些位点的突变将会对MED12蛋白的功能产生影响,最终导致不同疾病的发生,如Opitz-Kaveggia综合征、Lujan综合征、子宫肌瘤、前列腺癌等。该文围绕MED12的突变位点及其产生的相关疾病进行综述,旨在为更好地了解MED12基因的功能以及为临床诊断和治疗提供新的理念。
Mediator of RNA polymerase Ⅱ transcription 1 2 （MED1 2）,is a subunit of the Mediator complex,which is thought to regulate transcription in eukaryotes and moderate receptor tyrosine kinase,nuclear receptor and Wnt pathway signaling. Moreover,MED1 2 plays a key role in an evolutionary conserved region.However,there are some hot mutation sites in MED1 2 gene sequences. The different mutation sites of this pro-tein can link to distinct diseases,such as Opitz-Kaveggia syndrome,Lujan syndrome,uterine leiomyomas, prostate cancer et al. This article focused on MED1 2 mutation sites in related diseases,and try to provide new ideas for clinical diagnosis and treatment,for better understand the function of MED1 2 gene.
出处
《新医学》
2014年第1期9-11,共3页
Journal of New Medicine
