Phelps Michael P, Bailey Jenna N, Vleeshouwer-Neumann Terra, Chen Eleanor Y
Department of Pathology, University of Washington, Seattle, WA 98195.
Department of Pathology, University of Washington, Seattle, WA 98195
Proc Natl Acad Sci U S A. 2016 Dec 27;113(52):15090-15095. doi: 10.1073/pnas.1610270114. Epub 2016 Dec 12.
Dysregulated gene expression resulting from abnormal epigenetic alterations including histone acetylation and deacetylation has been demonstrated to play an important role in driving tumor growth and progression. However, the mechanisms by which specific histone deacetylases (HDACs) regulate differentiation in solid tumors remains unclear. Using pediatric rhabdomyosarcoma (RMS) as a paradigm to elucidate the mechanism blocking differentiation in solid tumors, we identified HDAC3 as a major suppressor of myogenic differentiation from a high-efficiency Clustered regularly interspaced short palindromic repeats (CRISPR)-based phenotypic screen of class I and II HDAC genes. Detailed characterization of the HDAC3-knockout phenotype in vitro and in vivo using a tamoxifen-inducible CRISPR targeting strategy demonstrated that HDAC3 deacetylase activity and the formation of a functional complex with nuclear receptor corepressors (NCORs) were critical in restricting differentiation in RMS. The NCOR/HDAC3 complex specifically functions by blocking myoblast determination protein 1 (MYOD1)-mediated activation of myogenic differentiation. Interestingly, there was also a transient up-regulation of growth-promoting genes upon initial HDAC3 targeting, revealing a unique cancer-specific response to the forced transition from a neoplastic state to terminal differentiation. Our study applied modifications of CRISPR/CRISPR-associated endonuclease 9 (Cas9) technology to interrogate the function of essential cancer genes and pathways and has provided insights into cancer cell adaptation in response to altered differentiation status. Because current pan-HDAC inhibitors have shown disappointing results in clinical trials of solid tumors, therapeutic targets specific to HDAC3 function represent a promising option for differentiation therapy in malignant tumors with dysregulated HDAC3 activity.
包括组蛋白乙酰化和去乙酰化在内的异常表观遗传改变导致的基因表达失调,已被证明在驱动肿瘤生长和进展中起重要作用。然而,特定组蛋白去乙酰化酶(HDACs)调节实体瘤分化的机制仍不清楚。我们以小儿横纹肌肉瘤(RMS)作为阐明实体瘤分化受阻机制的范例,通过基于I类和II类HDAC基因的高效成簇规律间隔短回文重复序列(CRISPR)表型筛选,确定HDAC3是肌源性分化的主要抑制因子。使用他莫昔芬诱导的CRISPR靶向策略在体外和体内对HDAC3基因敲除表型进行详细表征,结果表明HDAC3去乙酰化酶活性以及与核受体共抑制因子(NCORs)形成功能复合物在限制RMS分化中至关重要。NCOR/HDAC3复合物通过阻断成肌细胞决定蛋白1(MYOD1)介导的肌源性分化激活而发挥特异性作用。有趣的是,在最初靶向HDAC3时,促进生长的基因也出现了短暂上调,揭示了肿瘤细胞对从肿瘤状态向终末分化的强制转变的独特反应。我们的研究应用了CRISPR/CRISPR相关核酸酶9(Cas9)技术的改进方法来探究关键癌症基因和通路的功能,并为癌细胞对分化状态改变的适应性提供了见解。由于目前的泛HDAC抑制剂在实体瘤临床试验中结果令人失望,针对HDAC3功能的特异性治疗靶点代表了HDAC3活性失调的恶性肿瘤分化治疗的一个有前景的选择。