Mechanisms of ribosomopathy and phase separation-related ribosomopathy.

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

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Mechanisms of ribosomopathy and phase separation-related ribosomopathy.

Author: Zhiyuan PAN ¹ ; Guofen LIN ² ; Hao LIU ¹ ; Guozhi LI ¹ ; Xiaoyi ZHANG ³ ; Jiewen DAI ^{4
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Author Information

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. Orthopedic and Reconstructive Medicine Center, The First Affiliated Hospital of Ningbo University, Ningbo 315211, China. fyyzhangxiaoyi@nbu.edu.cn.
4. 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. daijiewen@
5. com.
Publication Type:Review
Keywords: Phase separation; Ribosome; Ribosomopathy; Tissue specificity
MeSH: Humans; Ribosomes/physiology*; Ribosomal Proteins/metabolism*; Mutation; Animals; Cell Nucleolus/metabolism*; Protein Biosynthesis; Phase Separation
From: Journal of Zhejiang University. Science. B 2025;26(6):503-526
CountryChina
Language:English
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.