Research Institute of Molecular Pathology, Dr Bohr-Gasse 7, 1030 Vienna, Austria.
Development. 2010 Mar;137(6):935-43. doi: 10.1242/dev.035956. Epub 2010 Feb 11.
Mammals compensate X chromosome gene dosage between the sexes by silencing of one of the two female X chromosomes. X inactivation is initiated in the early embryo and requires the non-coding Xist RNA, which encompasses the inactive X chromosome (Xi) and triggers its silencing. In differentiated cells, several factors including the histone variant macroH2A and the scaffold attachment factor SAF-A are recruited to the Xi and maintain its repression. Consequently, in female somatic cells the Xi remains stably silenced independently of Xist. Here, we identify the Trithorax group protein Ash2l as a novel component of the Xi. Ash2l is recruited by Xist concomitantly with Saf-A and macroH2A at the transition to Xi maintenance. Recruitment of these factors characterizes a developmental transition point for the chromatin composition of the Xi. Surprisingly, expression of a mutant Xist RNA that does not cause gene repression can trigger recruitment of Ash2l, Saf-A and macroH2A to the X chromosome, and can cause chromosome-wide histone H4 hypoacetylation. This suggests that a chromatin configuration is established on non-genic chromatin on the Xi by Xist to provide a repressive compartment that could be used for maintaining gene silencing. Gene silencing is mechanistically separable from the formation of this repressive compartment and, thus, requires additional pathways. This observation highlights a crucial role for spatial organization of chromatin changes in the maintenance of X inactivation.
哺乳动物通过沉默两条 X 染色体中的一条来补偿雌雄之间 X 染色体基因剂量。X 染色体失活始于早期胚胎,需要非编码的 Xist RNA,它包含失活的 X 染色体(Xi)并触发其沉默。在分化细胞中,包括组蛋白变体 macroH2A 和支架附着因子 SAF-A 在内的几种因子被募集到 Xi 上并维持其抑制。因此,在雌性体细胞中,Xi 独立于 Xist 保持稳定沉默。在这里,我们确定了 Trithorax 组蛋白 Ash2l 是 Xi 的一个新成分。Ash2l 与 Saf-A 和 macroH2A 一起被 Xist 募集,在过渡到 Xi 维持时。这些因子的募集标志着 Xi 染色质组成的发育转变点。令人惊讶的是,表达一种不会引起基因沉默的突变 Xist RNA 可以触发 Ash2l、Saf-A 和 macroH2A 募集到 X 染色体,并导致染色体范围的组蛋白 H4 低乙酰化。这表明 Xist 在非基因染色质上建立了一种染色质构象,为维持基因沉默提供了一个抑制性隔室,可用于维持基因沉默。基因沉默与这种抑制性隔室的形成在机制上是可分离的,因此需要额外的途径。这一观察结果强调了染色质变化的空间组织在 X 染色体失活维持中的关键作用。