Chinese Academy of Sciences Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health-Changzheng Hospital Joint Center for Translational Medicine, Institutes for Translational Medicine, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Department of Thoracic Surgery, Changzheng Hospital, Shanghai, China.
J Exp Med. 2021 Aug 2;218(8). doi: 10.1084/jem.20210151. Epub 2021 Jun 18.
Central precocious puberty (CPP), largely caused by germline mutations in the MKRN3 gene, has been epidemiologically linked to cancers. MKRN3 is frequently mutated in non-small cell lung cancers (NSCLCs) with five cohorts. Genomic MKRN3 aberrations are significantly enriched in NSCLC samples harboring oncogenic KRAS mutations. Low MKRN3 expression levels correlate with poor patient survival. Reconstitution of MKRN3 in MKRN3-inactivated NSCLC cells directly abrogates in vitro and in vivo tumor growth and proliferation. MKRN3 knockout mice are susceptible to urethane-induced lung cancer, and lung cell-specific knockout of endogenous MKRN3 accelerates NSCLC tumorigenesis in vivo. A mass spectrometry-based proteomics screen identified PABPC1 as a major substrate for MKRN3. The tumor suppressor function of MKRN3 is dependent on its E3 ligase activity, and MKRN3 missense mutations identified in patients substantially compromise MKRN3-mediated PABPC1 ubiquitination. Furthermore, MKRN3 modulates cell proliferation through PABPC1 nonproteolytic ubiquitination and subsequently, PABPC1-mediated global protein synthesis. Our integrated approaches demonstrate that the CPP-associated gene MKRN3 is a tumor suppressor.
中枢性性早熟(CPP)主要由 MKRN3 基因的种系突变引起,已在流行病学上与癌症相关联。MKRN3 在具有五个队列的非小细胞肺癌(NSCLC)中经常发生突变。MKRN3 的基因组异常在携带致癌性 KRAS 突变的 NSCLC 样本中显著富集。MKRN3 表达水平低与患者生存不良相关。MKRN3 在 MKRN3 失活的 NSCLC 细胞中的重建直接消除了体外和体内的肿瘤生长和增殖。MKRN3 敲除小鼠易发生尿烷诱导的肺癌,而肺细胞特异性敲除内源性 MKRN3 可加速体内 NSCLC 肿瘤发生。基于质谱的蛋白质组学筛选鉴定出 PABPC1 是 MKRN3 的主要底物。MKRN3 的肿瘤抑制功能依赖于其 E3 连接酶活性,并且患者中鉴定出的 MKRN3 错义突变大大损害了 MKRN3 介导的 PABPC1 泛素化。此外,MKRN3 通过 PABPC1 非蛋白水解泛素化和随后的 PABPC1 介导的全球蛋白质合成来调节细胞增殖。我们的综合方法表明,与 CPP 相关的基因 MKRN3 是一种肿瘤抑制基因。