Department of Pharmacology, University of Colorado School of Medicine, Aurora, CO, 80045, USA.
Department of Biochemistry and Biophysics, Curriculum in Genetics and Molecular Biology, Lineberger Comprehensive Cancer Center, The University of North Carolina School of Medicine, Chapel Hill, NC, 27599, USA.
Nat Commun. 2020 Jul 3;11(1):3339. doi: 10.1038/s41467-020-17098-4.
Chromosomal NUP98-PHF23 translocation is associated with an aggressive form of acute myeloid leukemia (AML) and poor survival rate. Here, we report the molecular mechanisms by which NUP98-PHF23 recognizes the histone mark H3K4me3 and is inhibited by small molecule compounds, including disulfiram that directly targets the PHD finger of PHF23 (PHF23PHD). Our data support a critical role for the PHD fingers of NUP98-PHF23, and related NUP98-KDM5A and NUP98-BPTF fusions in driving leukemogenesis, and demonstrate that blocking this interaction in NUP98-PHF23 expressing AML cells leads to cell death through necrotic and late apoptosis pathways. An overlap of NUP98-KDM5A oncoprotein binding sites and H3K4me3-positive loci at the Hoxa/b gene clusters and Meis1 in ChIP-seq, together with NMR analysis of the H3K4me3-binding sites of the PHD fingers from PHF23, KDM5A and BPTF, suggests a common PHD finger-dependent mechanism that promotes leukemogenesis by this type of NUP98 fusions. Our findings highlight the direct correlation between the abilities of NUP98-PHD finger fusion chimeras to associate with H3K4me3-enriched chromatin and leukemic transformation.
NUP98-PHF23 染色体易位与侵袭性急性髓细胞白血病(AML)和低生存率相关。在此,我们报告了 NUP98-PHF23 识别组蛋白标记 H3K4me3 的分子机制,以及小分子化合物(包括直接靶向 PHF23 的 PHD 指的二硫化四乙基秋兰姆)对其的抑制作用。我们的数据支持 NUP98-PHF23、相关 NUP98-KDM5A 和 NUP98-BPTF 融合在驱动白血病发生中的 PHD 指的关键作用,并证明在表达 NUP98-PHF23 的 AML 细胞中阻断这种相互作用会导致通过坏死和晚期凋亡途径导致细胞死亡。NUP98-KDM5A 癌蛋白结合位点与 ChIP-seq 中 Hoxa/b 基因簇和 Meis1 处的 H3K4me3 阳性位点以及 PHF23、KDM5A 和 BPTF 的 PHD 指的 H3K4me3 结合位点的 NMR 分析之间存在重叠,提示了一种共同的 PHD 指依赖性机制,通过这种类型的 NUP98 融合促进白血病发生。我们的研究结果强调了 NUP98-PHD 指融合嵌合体与富含 H3K4me3 的染色质和白血病转化相关的能力之间的直接相关性。