Key Laboratory of Systems Biomedicine (Ministry of Education) and State Key Laboratory of Medical Genomics, National Research Center for Translational Medicine at Shanghai, Shanghai Center for Systems Biomedicine, Shanghai Jiao Tong University, Shanghai, 200240, China.
EMBO J. 2024 Oct;43(20):4542-4577. doi: 10.1038/s44318-024-00212-3. Epub 2024 Aug 27.
Heterochromatin, a key component of the eukaryotic nucleus, is fundamental to the regulation of genome stability, gene expression and cellular functions. However, the factors and mechanisms involved in heterochromatin formation and maintenance still remain largely unknown. Here, we show that insulin receptor tyrosine kinase substrate (IRTKS), an I-BAR domain protein, is indispensable for constitutive heterochromatin formation via liquid‒liquid phase separation (LLPS). In particular, IRTKS droplets can infiltrate heterochromatin condensates composed of HP1α and diverse DNA-bound nucleosomes. IRTKS can stabilize HP1α by recruiting the E2 ligase Ubc9 to SUMOylate HP1α, which enables it to form larger phase-separated droplets than unmodified HP1α. Furthermore, IRTKS deficiency leads to loss of heterochromatin, resulting in genome-wide changes in chromatin accessibility and aberrant transcription of repetitive DNA elements. This leads to activation of cGAS-STING pathway and type-I interferon (IFN-I) signaling, as well as to the induction of cellular senescence and senescence-associated secretory phenotype (SASP) responses. Collectively, our findings establish a mechanism by which IRTKS condensates consolidate constitutive heterochromatin, revealing an unexpected role of IRTKS as an epigenetic mediator of cellular senescence.
异染色质是真核细胞核的关键组成部分,对于基因组稳定性、基因表达和细胞功能的调节至关重要。然而,异染色质形成和维持所涉及的因素和机制在很大程度上仍然未知。在这里,我们表明胰岛素受体酪氨酸激酶底物(IRTKS),一种 I-BAR 结构域蛋白,通过液-液相分离(LLPS)对于组成型异染色质的形成是必不可少的。特别是,IRTKS 液滴可以渗透由 HP1α 和各种 DNA 结合核小体组成的异染色质凝聚物。IRTKS 可以通过招募 E2 连接酶 Ubc9 使 SUMO 化 HP1α 来稳定 HP1α,这使得它能够形成比未修饰的 HP1α 更大的相分离液滴。此外,IRTKS 缺陷导致异染色质丢失,导致染色质可及性的全基因组变化和重复 DNA 元件的异常转录。这导致 cGAS-STING 途径和 I 型干扰素(IFN-I)信号的激活,以及细胞衰老和衰老相关分泌表型(SASP)反应的诱导。总的来说,我们的发现确立了 IRTKS 凝聚物巩固组成型异染色质的机制,揭示了 IRTKS 作为细胞衰老的表观遗传介质的意想不到的作用。