Non-classical functions of nuclear pore proteins in ciliopathy

Frontiers in Molecular Biosciences

Molecular Biosciences

Yuan Zhang¹  Xiangyu Zhou²  Yan Chen² 

[1] Department of Assisted Reproduction, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China;Obstetrics and Gynecology Hospital of Fudan University, Fudan University Shanghai Medical College, Shanghai, China;

关键词: nuclear pore proteins;    nucleoporins;    Nup205;    Nup188;    cilia;    ciliopathy;    NEK3;    left-right patterning;   

DOI  :  10.3389/fmolb.2023.1278976

 received in 2023-08-17, accepted in 2023-10-02,  发布年份 2023

来源: Frontiers

【 摘 要 】

Nucleoporins (NUPs) constitute integral nuclear pore protein (NPC) elements. Although traditional NUP functions have been extensively researched, evidence of additional vital non-NPC roles, referred to herein as non-classical NUP functions, is also emerging. Several NUPs localise at the ciliary base. Indeed, Nup188, Nup93 or Nup205 knockdown results in cilia loss, impacting cardiac left–right patterning in models and cell lines. Genetic variants of Nup205 and Nup188 have been identified in patients with congenital heart disease and situs inversus totalis or heterotaxy, a prevalent human ciliopathy. These findings link non-classical NUP functions to human diseases. This mini-review summarises pivotal NUP interactions with NIMA-related kinases or nephronophthisis proteins that regulate ciliary function and explores other NUPs potentially implicated in cilia-related disorders. Overall, elucidating the non-classical roles of NUPs will enhance comprehension of ciliopathy aetiology.

【 授权许可】

Unknown   
Copyright © 2023 Chen, Zhang and Zhou.