Nuclear Pore Complexes and Nucleocytoplasmic Transport: From Structure to Function to Disease

Area of Science:

• Cell Biology
• Structural Biology
• Molecular Biology

Background:

• Nucleocytoplasmic transport is essential for cellular function, mediated by nuclear pore complexes (NPCs).
• Recent years have seen significant advancements in understanding NPC structure and nucleoporin composition.
• Emerging research highlights nucleoporin functions beyond transport and their involvement in disease.

Purpose of the Study:

• To review current understanding of NPC architecture and nucleocytoplasmic transport at the atomic level.
• To elucidate the specific functions of nucleoporins in nuclear trafficking.
• To highlight the role of nucleoporins and transport receptors in human diseases.

Main Methods:

• Cryo-electron tomography and X-ray crystallography for NPC ultrastructure.
• Mass spectrometry and genomic approaches for pathway regulation.
• Review of recent research findings and emerging results.

Main Results:

• Detailed insights into NPC ultrastructural organization and nucleoporin constituents.
• Understanding of specific nuclear transport pathway regulation and fine-tuning.
• Identification of nucleoporin roles in health and disease, including cancer and genetic disorders.

Conclusions:

• Atomic-level understanding of NPC architecture and nucleocytoplasmic transport is advancing.
• Individual nucleoporins have specific functions in nuclear trafficking.
• Nucleoporins and nuclear transport receptors are implicated in human diseases.