Genetics Branch, NCI, NIH, Bethesda, MD, USA.
Department of Oncohematology, Ospedale Pediatrico Bambino Gesù Research Institute, IRCCS, Rome, Italy.
Nat Genet. 2019 Dec;51(12):1714-1722. doi: 10.1038/s41588-019-0534-4. Epub 2019 Nov 29.
Core regulatory transcription factors (CR TFs) orchestrate the placement of super-enhancers (SEs) to activate transcription of cell-identity specifying gene networks, and are critical in promoting cancer. Here, we define the core regulatory circuitry of rhabdomyosarcoma and identify critical CR TF dependencies. These CR TFs build SEs that have the highest levels of histone acetylation, yet paradoxically the same SEs also harbor the greatest amounts of histone deacetylases. We find that hyperacetylation selectively halts CR TF transcription. To investigate the architectural determinants of this phenotype, we used absolute quantification of architecture (AQuA) HiChIP, which revealed erosion of native SE contacts, and aberrant spreading of contacts that involved histone acetylation. Hyperacetylation removes RNA polymerase II (RNA Pol II) from core regulatory genetic elements, and eliminates RNA Pol II but not BRD4 phase condensates. This study identifies an SE-specific requirement for balancing histone modification states to maintain SE architecture and CR TF transcription.
核心调控转录因子(CR TFs)协调超级增强子(SEs)的位置,以激活细胞身份指定基因网络的转录,在促进癌症方面至关重要。在这里,我们定义了横纹肌肉瘤的核心调控回路,并确定了关键的 CR TF 依赖性。这些 CR TFs 构建了具有最高组蛋白乙酰化水平的 SEs,但矛盾的是,相同的 SEs 也含有最多的组蛋白去乙酰化酶。我们发现,过度乙酰化选择性地阻止了 CR TF 的转录。为了研究这种表型的结构决定因素,我们使用了绝对定量的结构(AQuA)HiChIP,这揭示了天然 SE 接触的侵蚀,以及涉及组蛋白乙酰化的接触的异常扩散。过度乙酰化将 RNA 聚合酶 II(RNA Pol II)从核心调控遗传元件中去除,并消除了 RNA Pol II,但没有消除 BRD4 相凝聚物。这项研究确定了 SE 特异性的平衡组蛋白修饰状态以维持 SE 结构和 CR TF 转录的要求。
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