Dickmanns Achim, Kehlenbach Ralph H, Fahrenkrog Birthe
Abteilung für Molekulare Strukturbiologie, Institut für Mikrobiologie und Genetik, Göttinger Zentrum für Molekulare Biowissenschaften, Georg-August-Universität Göttingen, Göttingen, Germany.
Department of Molecular Biology, Faculty of Medicine, Georg-August-University of Göttingen, Göttingen, Germany.
Int Rev Cell Mol Biol. 2015;320:171-233. doi: 10.1016/bs.ircmb.2015.07.010. Epub 2015 Aug 19.
Nucleocytoplasmic transport is an essential cellular activity and occurs via nuclear pore complexes (NPCs) that reside in the double membrane of the nuclear envelope. Significant progress has been made during the past few years in unravelling the ultrastructural organization of NPCs and their constituents, the nucleoporins, by cryo-electron tomography and X-ray crystallography. Mass spectrometry and genomic approaches have provided deeper insight into the specific regulation and fine tuning of individual nuclear transport pathways. Recent research has also focused on the roles nucleoporins play in health and disease, some of which go beyond nucleocytoplasmic transport. Here we review emerging results aimed at understanding NPC architecture and nucleocytoplasmic transport at the atomic level, elucidating the specific function individual nucleoporins play in nuclear trafficking, and finally lighting up the contribution of nucleoporins and nuclear transport receptors in human diseases, such as cancer and certain genetic disorders.
核质运输是一项基本的细胞活动，通过位于核膜双层膜中的核孔复合体（NPC）进行。在过去几年中，通过冷冻电子断层扫描和X射线晶体学，在揭示核孔复合体及其成分核孔蛋白的超微结构组织方面取得了重大进展。质谱分析和基因组学方法为深入了解各个核运输途径的具体调控和精细调节提供了更多见解。最近的研究还聚焦于核孔蛋白在健康和疾病中的作用，其中一些作用超出了核质运输的范畴。在这里，我们综述了旨在从原子水平理解核孔复合体结构和核质运输、阐明单个核孔蛋白在核运输中发挥的特定功能，以及最终揭示核孔蛋白和核运输受体在人类疾病（如癌症和某些遗传疾病）中的作用的新成果。
