Functional Genetics Section, Genetics Branch, Center for Cancer Research, NCI, NIH, Bethesda, Maryland.
Omics Bioinformatics Facility, Genetics Branch, Center for Cancer Research, NCI, NIH, Bethesda, Maryland.
Mol Cancer Res. 2024 Jul 2;22(7):625-641. doi: 10.1158/1541-7786.MCR-23-1090.
The mechanistic basis for the metastasis of Ewing sarcomas remains poorly understood, as these tumors harbor few mutations beyond the chromosomal translocation that initiates the disease. Instead, the epigenome of Ewing sarcoma cells reflects the regulatory state of genes associated with the DNA-binding activity of the fusion oncoproteins EWSR1::FLI1 or EWSR1::ERG. In this study, we examined the EWSR1::FLI1/ERG's repression of transcription factor genes, concentrating on those that exhibit a broader range of expression in tumors than in Ewing sarcoma cell lines. Focusing on one of these target genes, ETS1, we detected EWSR1::FLI1 binding and an H3K27me3-repressive mark at this locus. Depletion of EWSR1::FLI1 results in ETS1's binding of promoter regions, substantially altering the transcriptome of Ewing sarcoma cells, including the upregulation of the gene encoding TENSIN3 (TNS3), a focal adhesion protein. Ewing sarcoma cell lines expressing ETS1 (CRISPRa) exhibited increased TNS3 expression and enhanced movement compared with control cells. Visualization of control Ewing sarcoma cells showed a distributed vinculin signal and a network-like organization of F-actin; in contrast, ETS1-activated Ewing sarcoma cells showed an accumulation of vinculin and F-actin toward the plasma membrane. Interestingly, the phenotype of ETS1-activated Ewing sarcoma cell lines depleted of TNS3 resembled the phenotype of the control cells. Critically, these findings have clinical relevance as TNS3 expression in Ewing sarcoma tumors positively correlates with that of ETS1. Implications: ETS1's transcriptional regulation of the gene encoding the focal adhesion protein TENSIN3 in Ewing sarcoma cells promotes cell movement, a critical step in the evolution of metastasis.
尤因肉瘤转移的机制基础仍知之甚少,因为这些肿瘤除了引发疾病的染色体易位之外,很少有突变。相反,尤因肉瘤细胞的表观基因组反映了与融合致癌蛋白 EWSR1::FLI1 或 EWSR1::ERG 的 DNA 结合活性相关基因的调控状态。在这项研究中,我们检查了 EWSR1::FLI1/ERG 对转录因子基因的抑制作用,重点关注那些在肿瘤中表达范围比在尤因肉瘤细胞系中更广泛的基因。我们专注于其中一个靶基因 ETS1,在该基因座检测到 EWSR1::FLI1 结合和 H3K27me3 抑制标记。EWSR1::FLI1 的耗竭导致 ETS1 结合启动子区域,这极大地改变了尤因肉瘤细胞的转录组,包括编码粘着斑蛋白 TENSIN3(TNS3)的基因上调。表达 ETS1(CRISPRa)的尤因肉瘤细胞系表现出 TNS3 表达增加和运动增强,与对照细胞相比。对对照尤因肉瘤细胞的可视化显示出分散的 vinculin 信号和 F-肌动蛋白的网络状组织;相比之下,激活 ETS1 的尤因肉瘤细胞显示出 vinculin 和 F-肌动蛋白向质膜的积累。有趣的是,耗尽 TNS3 的 ETS1 激活的尤因肉瘤细胞系的表型类似于对照细胞的表型。至关重要的是,这些发现具有临床相关性,因为尤因肉瘤肿瘤中 TNS3 的表达与 ETS1 的表达呈正相关。意义:ETS1 对尤因肉瘤细胞中粘着斑蛋白 TENSIN3 编码基因的转录调控促进了细胞运动,这是转移进化的关键步骤。