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CTCF/RAD21 组织染色质 - 核斑点关联的基态。

CTCF/RAD21 organize the ground state of chromatin-nuclear speckle association.

作者信息

Yu Ruofan, Roseman Shelby, Siegenfeld Allison P, Gardner Zachary, Nguyen Son C, Tran Khoa A, Joyce Eric F, Jain Rajan, Liau Brian B, Krantz Ian D, Alexander Katherine A, Berger Shelley L

机构信息

Penn Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Departments of Cell and Developmental Biology; Genetics; Biology, University of Pennsylvania, Philadelphia, PA, USA.

出版信息

Nat Struct Mol Biol. 2025 Feb 21. doi: 10.1038/s41594-024-01465-6.

Abstract

Recent findings indicate that nuclear speckles, a distinct type of nuclear body, interact with certain chromatin regions in a ground state. Here, we report that the chromatin structural factors CTCF and cohesin are required for full ground-state association between DNA and nuclear speckles. We identified a putative speckle-targeting motif (STM) within cohesin subunit RAD21 and demonstrated that the STM is required for chromatin-nuclear speckle association, disruption of which also impaired induction of speckle-associated genes. Depletion of the cohesin-releasing factor WAPL, which stabilizes cohesin on chromatin, resulted in reinforcement of DNA-speckle contacts and enhanced inducibility of speckle-associated genes. Additionally, we observed disruption of chromatin-nuclear speckle association in patient-derived cells with Cornelia de Lange syndrome, a congenital neurodevelopmental disorder involving defective cohesin pathways. In summary, our findings reveal a mechanism for establishing the ground state of chromatin-speckle association and promoting gene inducibility, with relevance to human disease.

摘要

最近的研究结果表明,核斑点作为一种独特的核体,在基态下与某些染色质区域相互作用。在此,我们报告染色质结构因子CTCF和黏连蛋白是DNA与核斑点之间完全基态关联所必需的。我们在黏连蛋白亚基RAD21内鉴定出一个假定的斑点靶向基序(STM),并证明STM是染色质 - 核斑点关联所必需的,其破坏也会损害斑点相关基因的诱导。稳定染色质上黏连蛋白的黏连蛋白释放因子WAPL的缺失导致DNA - 斑点接触增强以及斑点相关基因的诱导性增强。此外,我们在患有科妮莉亚·德·朗格综合征的患者来源细胞中观察到染色质 - 核斑点关联的破坏,这是一种涉及黏连蛋白途径缺陷的先天性神经发育障碍。总之,我们的研究结果揭示了一种建立染色质 - 斑点关联基态并促进基因诱导性的机制,这与人类疾病相关。

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