Laboratory of Cancer Biology and Genetics, Metastasis Susceptibility Section, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.
Guangdong Provincial Key Laboratory for Genome Stability and Disease Prevention, Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Health Science Center, Shenzhen University, 518060, Shenzhen, Guangdong, PR China.
Commun Biol. 2024 Oct 10;7(1):1299. doi: 10.1038/s42003-024-07018-3.
Breast cancer is the most frequently diagnosed cancer worldwide, constituting 15% of cases in 2023. The predominant cause of breast cancer-related mortality is metastasis, and a lack of metastasis-targeted therapies perpetuates dismal outcomes for late-stage patients. By using meiotic genetics to study inherited transcriptional network regulation, we have identified, to the best of our knowledge, a new class of "essential expression-restricted" genes as potential candidates for metastasis-targeted therapeutics. Building upon previous work implicating the CCR4-NOT RNA deadenylase complex in metastasis, we demonstrate that RNA-binding proteins NANOS1, PUM2, and CPSF4 also regulate metastatic potential. Using various models and clinical data, we pinpoint Smarcd1 mRNA as a target of all three RNA-BPs. Strikingly, both high and low expression of Smarcd1 correlate with positive clinical outcomes, while intermediate expression significantly reduces the probability of survival. Applying the theory of "essential genes" from evolution, we identify 50 additional genes that require precise expression levels for metastasis to occur. Specifically, small perturbations in Smarcd1 expression significantly reduce metastasis in mouse models and alter splicing programs relevant to the ER+/HER2-enriched breast cancer. Identification subtype-specific essential expression-restricted metastasis modifiers introduces a novel class of genes that, when therapeutically "nudged" in either direction, may significantly improve late-stage breast cancer patients.
乳腺癌是全球最常见的癌症,占 2023 年病例的 15%。乳腺癌相关死亡率的主要原因是转移,而缺乏针对转移的治疗方法使晚期患者的预后仍然不佳。通过使用减数分裂遗传学研究遗传转录网络调节,我们已经发现了一类新的“必需表达受限”基因,它们可能是针对转移的治疗靶点的候选基因。在先前的研究表明 CCR4-NOT RNA 脱腺苷酶复合物与转移有关的基础上,我们证明 RNA 结合蛋白 NANOS1、PUM2 和 CPSF4 也调节转移潜能。使用各种模型和临床数据,我们确定 Smarcd1 mRNA 是这三种 RNA-BP 的靶标。引人注目的是,Smarcd1 的高表达和低表达都与阳性临床结果相关,而中等表达则显著降低了生存的可能性。应用进化中的“必需基因”理论,我们确定了另外 50 个需要精确表达水平才能发生转移的基因。具体来说,Smarcd1 表达的微小扰动显著降低了小鼠模型中的转移,并改变了与 ER+/HER2 富集型乳腺癌相关的剪接程序。鉴定出特定亚型的必需表达受限的转移修饰因子,引入了一类新的基因,当在任何方向上进行“推动”治疗时,都可能显著改善晚期乳腺癌患者的预后。