Blood Cell Development and Function Program, Fox Chase Cancer Center, Philadelphia, PA 19111.
Division of Bioinformatics and Biostatistics, National Center for Toxicological Research/Food and Drug Administration, Jefferson, AR 72079.
Proc Natl Acad Sci U S A. 2020 Nov 17;117(46):28980-28991. doi: 10.1073/pnas.2014470117. Epub 2020 Nov 2.
More than 70% of Epstein-Barr virus (EBV)-negative Hodgkin lymphoma (HL) cases display inactivation of TNFAIP3 (A20), a ubiquitin-editing protein that regulates nonproteolytic protein ubiquitination, indicating the significance of protein ubiquitination in HL pathogenesis. However, the precise mechanistic roles of A20 and the ubiquitination system remain largely unknown in this disease. Here, we performed high-throughput CRISPR screening using a ubiquitin regulator-focused single-guide RNA library in HL lines carrying either wild-type or mutant A20. Our CRISPR screening highlights the essential oncogenic role of the linear ubiquitin chain assembly complex (LUBAC) in HL lines, which overlaps with A20 inactivation status. Mechanistically, LUBAC promotes IKK/NF-κB activity and NEMO linear ubiquitination in A20 mutant HL cells, which is required for prosurvival genes and immunosuppressive molecule expression. As a tumor suppressor, A20 directly inhibits IKK activation and HL cell survival via its C-terminal linear-ubiquitin binding ZF7. Clinically, LUBAC activity is consistently elevated in most primary HL cases, and this is correlated with high NF-κB activity and low A20 expression. To further understand the complete mechanism of NF-κB activation in A20 mutant HL, we performed a specifically designed CD83-based NF-κB CRISPR screen which led us to identify TAK1 kinase as a major mediator for NF-κB activation in cells dependent on LUBAC, where the LUBAC-A20 axis regulates TAK1 and IKK complex formation. Finally, TAK1 inhibitor Takinib shows promising activity against HL in vitro and in a xenograft mouse model. Altogether, these findings provide strong support that targeting LUBAC or TAK1 could be attractive therapeutic strategies in A20 mutant HL.
超过 70%的 EBV 阴性霍奇金淋巴瘤 (HL) 病例显示 TNFAIP3 (A20) 的失活,A20 是一种调节非蛋白水解蛋白泛素化的泛素编辑蛋白,表明蛋白泛素化在 HL 发病机制中的重要性。然而,在这种疾病中,A20 和泛素化系统的确切机制作用在很大程度上仍然未知。在这里,我们使用针对泛素调节剂的单引导 RNA 文库在携带野生型或突变 A20 的 HL 系中进行了高通量 CRISPR 筛选。我们的 CRISPR 筛选突出了 LUBAC 在 HL 系中的致癌作用,这与 A20 失活状态重叠。从机制上讲,LUBAC 促进 A20 突变 HL 细胞中 IKK/NF-κB 活性和 NEMO 线性泛素化,这对于生存基因和免疫抑制分子的表达是必需的。作为肿瘤抑制因子,A20 通过其 C 末端线性泛素结合 ZF7 直接抑制 IKK 激活和 HL 细胞存活。临床上,LUBAC 活性在大多数原发性 HL 病例中持续升高,这与 NF-κB 活性高和 A20 表达低有关。为了进一步了解 A20 突变 HL 中 NF-κB 激活的完整机制,我们进行了一项专门设计的基于 CD83 的 NF-κB CRISPR 筛选,该筛选使我们发现 TAK1 激酶是依赖 LUBAC 的细胞中 NF-κB 激活的主要介质,其中 LUBAC-A20 轴调节 TAK1 和 IKK 复合物的形成。最后,TAK1 抑制剂 Takinib 在体外和异种移植小鼠模型中对 HL 显示出有希望的活性。总之,这些发现为靶向 LUBAC 或 TAK1 作为 A20 突变 HL 的有吸引力的治疗策略提供了强有力的支持。