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Journal of Zhejiang University SCIENCE B

ISSN 1673-1581(Print), 1862-1783(Online), Monthly

2025 Vol.26 No.6 P.503-526

Mechanisms of ribosomopathy and phase separation-related ribosomopathy

Zhiyuan PAN, Guofen LIN, Hao LIU, Guozhi LI, Xiaoyi ZHANG, Jiewen DAI

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; 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; School of Stomatology, Shandong Second Medical University, Weifang 261000, China; Orthopedic and Reconstructive Medicine Center, The First Affiliated Hospital of Ningbo University, Ningbo 315211, China

daijiewen@163.com, fyyzhangxiaoyi@nbu.edu.cn

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.

Key words: Ribosome; Phase separation; Ribosomopathy; Tissue specificity

Chinese Summary  <3> 核糖体病和相分离相关核糖体病的机制

潘祉源1，林国芬2，刘昊1,3，李国治1，张晓艺4，代杰文1
1上海交通大学医学院附属第九人民医院口腔颅颌面科，上海交通大学口腔医学院，国家口腔医学中心，国家口腔疾病临床医学研究中心，上海市口腔医学重点实验室，上海市口腔医学研究所，中国上海市，200011
2浙江大学医学院附属口腔医院，浙江大学口腔医学院，浙江省口腔疾病临床医学研究中心，浙江省口腔生物医学研究重点实验室， 浙江大学癌症研究院，口腔生物材料与器械浙江省工程研究中心，中国杭州市，310000
3山东第二医科大学口腔医学院，中国潍坊市，261000
4宁波大学附属第一医院整形修复医学中心，中国宁波市，315211
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。

关键词组：核糖体；相分离；核糖体病；组织特异性


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DOI:

10.1631/jzus.B2300904

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On-line Access:

2025-06-25

Received:

2023-12-11

Revision Accepted:

2024-04-24

Crosschecked:

2025-06-25

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