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人类内在无序区域(IDRs)的生物分子凝聚通过染色体内环化或高密度启动子定位启动内源性转录。

Biomolecular condensation of human IDRs initiates endogenous transcription via intrachromosomal looping or high-density promoter localization.

作者信息

Li Jing, Liu Shizhe, Kim Sunghwan, Goell Jacob, Drum Zachary Allen, Flores John Patrick, Ma Alex J, Mahata Barun, Escobar Mario, Raterink Alex, Ahn Jeong Hyun, Terán Erik R, Guerra-Resendez Rosa Selenia, Zhou Yuhao, Yu Bo, Diehl Michael R, Wang Gang Greg, Gustavsson Anna-Karin, Phanstiel Douglas H, Hilton Isaac B

机构信息

Department of Bioengineering, Rice University, Houston, TX, 77030, United States.

Department of BioSciences, Rice University, Houston, TX, 77030, United States.

出版信息

Nucleic Acids Res. 2025 Feb 8;53(4). doi: 10.1093/nar/gkaf056.

Abstract

Protein intrinsically disordered regions (IDRs) are critical gene-regulatory components and aberrant fusions between IDRs and DNA-binding/chromatin-associating domains cause diverse human cancers. Despite this importance, how IDRs influence gene expression, and how aberrant IDR fusion proteins provoke oncogenesis, remains incompletely understood. Here we develop a series of synthetic dCas9-IDR fusions to establish that locus-specific recruitment of IDRs can be sufficient to stimulate endogenous gene expression. Using dCas9 fused to the paradigmatic leukemogenic NUP98 IDR, we also demonstrate that IDRs can activate transcription via localized biomolecular condensation and in a manner that is dependent upon overall IDR concentration, local binding density, and amino acid composition. To better clarify the oncogenic role of IDRs, we construct clinically observed NUP98 IDR fusions and show that, while generally non-overlapping, oncogenic NUP98-IDR fusions convergently drive a core leukemogenic gene expression program in donor-derived human hematopoietic stem cells. Interestingly, we find that this leukemic program arises through differing mechanistic routes based upon IDR fusion partner; either distributed intragenic binding and intrachromosomal looping, or dense binding at promoters. Altogether, our studies clarify the gene-regulatory roles of IDRs and, for the NUP98 IDR, connect this capacity to pathological cellular programs, creating potential opportunities for generalized and mechanistically tailored therapies.

摘要

蛋白质内在无序区域(IDRs)是关键的基因调控元件,IDRs与DNA结合/染色质相关结构域之间的异常融合会引发多种人类癌症。尽管其具有重要性,但IDRs如何影响基因表达,以及异常的IDR融合蛋白如何引发肿瘤发生,仍未完全清楚。在此,我们开发了一系列合成的dCas9-IDR融合蛋白,以确定IDRs在基因座特异性募集足以刺激内源性基因表达。使用与典型致白血病的NUP98 IDR融合的dCas9,我们还证明IDRs可通过局部生物分子凝聚并以依赖于整体IDR浓度、局部结合密度和氨基酸组成的方式激活转录。为了更好地阐明IDRs的致癌作用,我们构建了临床上观察到的NUP98 IDR融合蛋白,并表明,虽然通常不重叠,但致癌性NUP98-IDR融合蛋白在供体来源的人类造血干细胞中趋同驱动核心致白血病基因表达程序。有趣的是,我们发现这种白血病程序是通过基于IDR融合伙伴的不同机制途径产生的;要么是分布在基因内的结合和染色体内的环化,要么是在启动子处的密集结合。总之,我们的研究阐明了IDRs的基因调控作用,并将NUP98 IDR的这种能力与病理性细胞程序联系起来,为通用的和基于机制的定制疗法创造了潜在机会。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a03/11811730/855d46f7ae69/gkaf056figgra1.jpg

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