Bioscience Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Kingdom of Saudi Arabia.
Gene Expression Laboratory, Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA, 92037, USA.
Nat Commun. 2022 Jun 25;13(1):3646. doi: 10.1038/s41467-022-31220-8.
The diverse functions of WASP, the deficiency of which causes Wiskott-Aldrich syndrome (WAS), remain poorly defined. We generated three isogenic WAS models using patient induced pluripotent stem cells and genome editing. These models recapitulated WAS phenotypes and revealed that WASP deficiency causes an upregulation of numerous RNA splicing factors and widespread altered splicing. Loss of WASP binding to splicing factor gene promoters frequently leads to aberrant epigenetic activation. WASP interacts with dozens of nuclear speckle constituents and constrains SRSF2 mobility. Using an optogenetic system, we showed that WASP forms phase-separated condensates that encompasses SRSF2, nascent RNA and active Pol II. The role of WASP in gene body condensates is corroborated by ChIPseq and RIPseq. Together our data reveal that WASP is a nexus regulator of RNA splicing that controls the transcription of splicing factors epigenetically and the dynamics of the splicing machinery through liquid-liquid phase separation.
WASP 的多种功能尚未明确,其缺乏会导致威斯科特-奥尔德里奇综合征(Wiskott-Aldrich syndrome,WAS)。我们利用患者诱导的多能干细胞和基因组编辑生成了三种同基因 WAS 模型。这些模型再现了 WAS 表型,并揭示了 WASP 缺乏会导致大量 RNA 剪接因子的上调和广泛的剪接改变。WASP 与剪接因子基因启动子结合的缺失经常导致异常的表观遗传激活。WASP 与数十种核斑点成分相互作用,并限制 SRSF2 的迁移。我们使用光遗传学系统表明,WASP 形成了包含 SRSF2、新生 RNA 和活跃的 Pol II 的相分离凝聚物。WASP 在基因体凝聚物中的作用得到了 ChIPseq 和 RIPseq 的证实。综上所述,我们的数据表明,WASP 是 RNA 剪接的枢纽调节因子,通过液-液相分离,从表观遗传上控制剪接因子的转录和剪接机制的动力学。