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