Department of Reproduction and Development, Erasmus MC, University Medical Center, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands.
Nature. 2012 Apr 29;485(7398):386-90. doi: 10.1038/nature11070.
Evolution of the mammalian sex chromosomes has resulted in a heterologous X and Y pair, where the Y chromosome has lost most of its genes. Hence, there is a need for X-linked gene dosage compensation between XY males and XX females. In placental mammals, this is achieved by random inactivation of one X chromosome in all female somatic cells. Upregulation of Xist transcription on the future inactive X chromosome acts against Tsix antisense transcription, and spreading of Xist RNA in cis triggers epigenetic changes leading to X-chromosome inactivation. Previously, we have shown that the X-encoded E3 ubiquitin ligase RNF12 is upregulated in differentiating mouse embryonic stem cells and activates Xist transcription and X-chromosome inactivation. Here we identify the pluripotency factor REX1 as a key target of RNF12 in the mechanism of X-chromosome inactivation. RNF12 causes ubiquitination and proteasomal degradation of REX1, and Rnf12 knockout embryonic stem cells show an increased level of REX1. Using chromatin immunoprecipitation sequencing, REX1 binding sites were detected in Xist and Tsix regulatory regions. Overexpression of REX1 in female embryonic stem cells was found to inhibit Xist transcription and X-chromosome inactivation, whereas male Rex1(+/-) embryonic stem cells showed ectopic X-chromosome inactivation. From this, we propose that RNF12 causes REX1 breakdown through dose-dependent catalysis, thereby representing an important pathway to initiate X-chromosome inactivation. Rex1 and Xist are present only in placental mammals, which points to co-evolution of these two genes and X-chromosome inactivation.
哺乳动物性染色体的进化导致了异型的 X 和 Y 对,其中 Y 染色体失去了大部分基因。因此,需要在 XY 雄性和 XX 雌性之间进行 X 连锁基因剂量补偿。在胎盘哺乳动物中,这是通过随机失活所有雌性体细胞中的一条 X 染色体来实现的。未来失活 X 染色体上 Xist 转录的上调会对抗 Tsix 反义转录,并且 Xist RNA 在顺式中的扩散会触发导致 X 染色体失活的表观遗传变化。此前,我们已经表明,X 编码的 E3 泛素连接酶 RNF12 在分化的小鼠胚胎干细胞中上调,并激活 Xist 转录和 X 染色体失活。在这里,我们确定多能因子 REX1 是 RNF12 在 X 染色体失活机制中的关键靶标。RNF12 导致 REX1 的泛素化和蛋白酶体降解,并且 Rnf12 敲除胚胎干细胞显示出 REX1 水平增加。使用染色质免疫沉淀测序,在 Xist 和 Tsix 调控区域检测到 REX1 结合位点。在雌性胚胎干细胞中过表达 REX1 被发现抑制 Xist 转录和 X 染色体失活,而雄性 Rex1(+/-)胚胎干细胞则显示出异位 X 染色体失活。由此,我们提出 RNF12 通过剂量依赖性催化导致 REX1 降解,从而代表了启动 X 染色体失活的重要途径。REX1 和 Xist 仅存在于胎盘哺乳动物中,这表明这两个基因和 X 染色体失活的共同进化。