纤毛微管蛋白翻译后修饰及其与纤毛病相关的研究进展

doi:10.16288/j.yczz.25-121

遗传 ›› 2026, Vol. 48 ›› Issue (2): 142-157.doi: 10.16288/j.yczz.25-121

纤毛微管蛋白翻译后修饰及其与纤毛病相关的研究进展

彭子涛(), 林炯辰, 谢海波()

中国海洋大学海洋生物多样性与进化研究所，青岛 266003

收稿日期:2025-05-04 修回日期:2025-07-10 出版日期:2026-07-29 发布日期:2025-07-29
通讯作者: 谢海波，博士，副教授，研究方向：遗传学。E-mail：xiehaibo@ouc.edu.cn
作者简介:彭子涛，硕士研究生，专业方向：海洋生物学。E-mail：zitaoPeng1006@163.com
基金资助:
国家自然科学基金(32470856)

Progress on posttranslational modifications of ciliary tubulin and association with ciliopathies

Zitao Peng(), Jiongchen Lin, Haibo Xie()

Institute of Evolution & Marine Biodiversity, Ocean University of China, Qingdao 266003, China

Received:2025-05-04 Revised:2025-07-10 Published:2026-07-29 Online:2025-07-29
Supported by:
National Nature Science Foundation of China(32470856)

摘要/Abstract

摘要：

纤毛(cilia)是一种内含微管蛋白骨架、外被纤毛膜并从真核生物细胞表面凸起的毛发状结构，与生物体器官发育和稳态维持密切相关。纤毛微管蛋白经历了多种高度保守的翻译后修饰(posttranslational modifications，PTMs)，包括乙酰化、谷氨酰化、甘氨酰化、去酪氨酸化等。研究表明，纤毛微管蛋白翻译后修饰能够精密调控纤毛组装/解聚的动态平衡、结构维持、运动功能以及信号转导等生理过程。纤毛微管蛋白翻译后修饰的异常调控会导致纤毛的功能障碍，从而引发包含纤毛病(ciliopathies)在内的人类疾病。本文综述了纤毛微管蛋白翻译后修饰调控纤毛形成与功能的研究进展，并重点探讨其与人类纤毛疾病的关联，以期为纤毛病的治疗干预提供新途径。

关键词: 纤毛, 微管蛋白翻译后修饰, 功能障碍, 纤毛病

Abstract:

Cilia are hair-like structures protruding from the surface of eukaryotic cells, composed of a microtubule-based cytoskeleton and bounded by ciliary membrane, which play a crucial role in organ development and homeostasis maintenance in organisms. The ciliary tubulin undergoes several highly conserved posttranslational modifications (PTMs) including acetylation, glutamylation, glycylation and detyrosination. The studies indicate that ciliary tubulin PTMs are adequate to precisely regulate the fine tuning of assembly/disassembly, maintenance, motility, and signaling of cilia. Dysregulated ciliary tubulin PTMs leads to ciliary dysfunction, strongly implicated in human disorders including ciliopathies. Here, we review the current understanding how ciliary tubulin PTMs regulate cilia formation and function, with a focus on their association with human disorders, which may provide novel avenues for therapeutic intervention in ciliopathies.

Key words: cilia, tubulin posttranslational modifications, dysfunction, ciliopathies

彭子涛, 林炯辰, 谢海波. 纤毛微管蛋白翻译后修饰及其与纤毛病相关的研究进展[J]. 遗传, 2026, 48(2): 142-157.

Zitao Peng, Jiongchen Lin, Haibo Xie. Progress on posttranslational modifications of ciliary tubulin and association with ciliopathies[J]. Hereditas(Beijing), 2026, 48(2): 142-157.

图/表 2

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纤毛微管蛋白翻译后修饰及其与纤毛病相关的研究进展

Progress on posttranslational modifications of ciliary tubulin and association with ciliopathies

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