Li Pengli, Zhai Ziwei, Fan Yixin, Li Wei, Ke Minjing, Li Xiaoxi, Gao Huiru, Fu Yu, Ma Zhaoyi, Zhang Wenhui, Yi Hongyan, Ming Jin, Qin Yue, Wang Bo, Kuang Junqi, Pei Duanqing
Laboratory of Cell Fate Control, School of Life Sciences, Westlake University, Hangzhou, China.
Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, China.
Oncogenesis. 2024 Oct 29;13(1):38. doi: 10.1038/s41389-024-00539-w.
SS18-SSX onco-fusion protein formed through aberrant chromosomal translocation t (X, 18; p11, q11), is the hallmark and plays a critical role in synovial sarcomagenesis. The recent works indicated that both the pathological SS18-SSX tumorigenic fusion and the corresponding intrinsic physiological SS18 protein can form condensates but appear to have disparate properties. The underlying regulatory mechanism and the consequent biological significance remain largely unknown. We show that the physical properties of oncogenic fusion protein SS18-SSX condensates within cells undergo alterations compared to the proto-oncogene protein SS18. By small-molecule screening and mutant assay, we identified the recognition of H2AK119ub histone modification could account for the distinctive properties of SS18-SSX1 condensates. Notably, we show that SS18-SSX1 condensates have impact on SS18 condensates and hijack that in a phase separation manner, resulting in the relocation of protein SS18 to the H2AK119ub modification targeted by SS18-SSX1. Consequently, this leads to the downregulation of tumor suppressor genes occupied by SS18 physiologically, like CAV1 and DAB2. These results reveal the underlying mechanism of genomic disorder and tumorigenesis caused by the remodeling of oncoprotein SS18-SSX1 condensates at the macroscopic level.
通过异常染色体易位t(X;18)(p11;q11)形成的SS18-SSX致癌融合蛋白是滑膜肉瘤发生的标志,并且在其中发挥关键作用。最近的研究表明,病理性的SS18-SSX致瘤融合蛋白和相应的内在生理性SS18蛋白都能形成凝聚物,但似乎具有不同的特性。其潜在的调控机制以及随之而来的生物学意义在很大程度上仍然未知。我们发现,与原癌基因蛋白SS18相比,细胞内致癌融合蛋白SS18-SSX凝聚物的物理性质发生了改变。通过小分子筛选和突变体分析,我们确定对H2AK119ub组蛋白修饰的识别可以解释SS18-SSX1凝聚物的独特性质。值得注意的是,我们发现SS18-SSX1凝聚物对SS18凝聚物有影响,并以相分离的方式劫持它,导致蛋白SS18重新定位到SS18-SSX1靶向的H2AK119ub修饰处。因此,这导致了生理上被SS18占据的肿瘤抑制基因(如CAV1和DAB2)的下调。这些结果揭示了在宏观水平上癌蛋白SS18-SSX1凝聚物重塑导致基因组紊乱和肿瘤发生的潜在机制。