核糖体病和相分离相关核糖体病的机制

潘祉源; 林国芬; 刘昊; 李国治; 张晓艺; 代杰文

doi:10.1631/jzus.B2300904

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核糖体病和相分离相关核糖体病的机制
Mechanisms of ribosomopathy and phase separation-related ribosomopathy
浙江大学学报（英文版）（B辑：生物医学和生物技术） 2025年26卷第6期页码：503-526
Affiliations：

1.Department of Oral and Cranio-Maxillofacial Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine; College of Stomatology, Shanghai Jiao Tong University; National Center for Stomatology; National Clinical Research Center for Oral Diseases; Shanghai Key Laboratory of Stomatology; Shanghai Research Institute of Stomatology, Shanghai 200011, China
2.Stomatology Hospital, School of Stomatology, Zhejiang University School of Medicine, Zhejiang Provincial Clinical Research Center for Oral Diseases, Key Laboratory of Oral Biomedical Research of Zhejiang Province, Cancer Center of Zhejiang University, Engineering Research Center of Oral Biomaterials and Devices of Zhejiang Province, Hangzhou 310000, China
3.School of Stomatology, Shandong Second Medical University, Weifang 261000, China
4.Orthopedic and Reconstructive Medicine Center, The First Affiliated Hospital of Ningbo University, Ningbo 315211, China
Funds：

the National Natural Science Foundation of China(82071097;82370906);the Shanghai Pujiang Program(2020PJD026);the Key Laboratory of Oral Biomedical Research of Zhejiang Province Foundation(2021M007);the Research Project of Shanghai Municipal Health Commission(20234Z0006)
DOI：10.1631/jzus.B2300904
中图分类号：
CSTR：
收稿日期：2023-12-11，

修回日期：2024-04-24，

网络出版日期：2025-06-02，

纸质出版日期：2025-06-24
Accepted：

潘祉源,林国芬,刘昊等.核糖体病和相分离相关核糖体病的机制[J].浙江大学学报（英文版）（B辑：生物医学和生物技术）,2025,26(06):503-526.

Zhiyuan PAN, Guofen LIN, Hao LIU, et al. Mechanisms of ribosomopathy and phase separation-related ribosomopathy[J]. Journal of zhejiang university-science b (biomedicine & biotechnology), 2025, 26(6): 503-526.
潘祉源,林国芬,刘昊等.核糖体病和相分离相关核糖体病的机制[J].浙江大学学报（英文版）（B辑：生物医学和生物技术）,2025,26(06):503-526. DOI： 10.1631/jzus.B2300904.

Zhiyuan PAN, Guofen LIN, Hao LIU, et al. Mechanisms of ribosomopathy and phase separation-related ribosomopathy[J]. Journal of zhejiang university-science b (biomedicine & biotechnology), 2025, 26(6): 503-526. DOI： 10.1631/jzus.B2300904.

摘要

核糖体是细胞内的核糖核蛋白颗粒，是蛋白质生物合成的场所。编码核糖体蛋白（RP）和核糖体生物发生因子（RBF）的基因突变会导致核糖体功能障碍，从而引发一系列疾病，统称为核糖体病。相分离是一种从均质混合物中产生多相的热力学过程。无膜细胞器和细胞内结构（包括核糖体和核小体）的形成离不开相分离现象的参与。本文系统综述了核糖体的结构、生物发生及其与核糖体病的关系，特别讨论了核糖体病的组织特异性和相分离在其中的作用机制。这些发现为理解核糖体病的发病机理提供重要线索，并为进一步开展核糖体病预防、诊断和治疗提供了新思路。

Abstract

Ribosome is an intracellular ribonucleoprotein particle that serves as the site of protein biosynthesis. Ribosomal dysfunction caused by mutations in genes encoding ribosomal proteins (RPs) and ribosome biogenesis factors (RBFs) can lead to a spectrum of diseases

collectively known as ribosomopathy. Phase separation is a thermodynamic process that produces multiple phases from a homogeneous mixture. The formation of membraneless organelles and intracellular structures

including ribosomes and nucleoli

cannot occur without the involvement of phase separation. Here

ribosome structure

biogenesis

and their relationship with ribosomopathy are systematically reviewed. The tissue specificity of ribosomopathy and the role of phase separation in ribosomopathy are particularly discussed

which may offer some clues for understanding the mechanisms of ribosomopathy. Then

some new ideas for the prevention

diagnosis

and treatment of ribosomopathy are provided.

关键词

Keywords

references

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