Nuclear pore complex (NPC)-mediated nucleocytoplasmic trafficking is essential for key cellular processes, such as cell growth, cell differentiation, and gene regulation. The NPC has also been viewed as a nuclear architectural platform that impacts genome function and gene expression by mediating spatial and temporal coordination between transcription factors, chromatin regulatory proteins, and transcription machinery. Recent findings have uncovered differential and cell type-specific expression and distinct chromatin-binding patterns of individual NPC components known as nucleoporins (Nups). Here, we examine recent studies that investigate the functional roles of NPCs and Nups in transcription, chromatin organization, and epigenetic gene regulation in the context of development and disease.

核孔复合体 (NPC) 介导的核细胞质运输对于细胞生长、细胞分化和基因调控等关键细胞过程至关重要。NPC 也被视为一个核架构平台，通过介导转录因子、染色质调节蛋白和转录机制之间的空间和时间协调来影响基因组功能和基因表达。最近的研究结果揭示了称为核孔蛋白 (Nups) 的个体 NPC 成分的差异性和细胞类型特异性表达以及独特的染色质结合模式。在这里，我们回顾了最近的研究，这些研究调查了 NPC 和 Nups 在发育和疾病背景下的转录、染色质组织和表观遗传基因调控中的功能作用。