中文摘要：

应用随机RNAi文库，筛选了与胚胎干细胞自我更新和分化调控相关基因。发现了多个阳性候选基因，对其中的1个阳性候选基因肌管素1（myotubularin，MTM1）基因进行了深入研究．MTM1是属于蛋白酪氨酸磷酸酶（PTPase）蛋白家族的蛋白，其基因突变导致肌管性肌病．MTM1在胚胎干细胞中的功能到目前为止还不清楚．研究证实，MTM1在小鼠胚胎干细胞系CCE和R1均有表达．应用RNA干扰及集落形成实验证明，MTM1表达抑制后，处于自我更新状况胚胎干细胞集落的比例显著增加，提示MTM1在胚胎干细胞自我更新和分化的调控中起了重要的作用．

英文摘要：

Myotubularin 1 （MTM1） belongs to a protein tyrosine phosphatase （PTPase） superfamily. Mutations in MTM1 lead to myotubular myopathy, an X-linked genetic muscular disorder. The exact function of MTM1 in embryonic stem cells remained unclear. A functional genetic screen of genes that regulate the self- renewal and the differentiation of embryonic stem cells were performed using a random RNA interference library. MTM1 was expressed and positively identified as a candidate gene in several stem cell lines, such as CCE and R1, The knockdown of MTM1 expression led to a significant decreased ratio of undifferentiated stem cell colonies as determined by colony forming experiments. Our results suggested that MTM1 might play an important role in the regulation of self-renewal and differentiation in embryonic stem ceils.