Li Jianchao
Department of Otorhinolaryngology, Guangzhou First People's Hospital, School of Medicine, South China University of Technology, Guangzhou 510180, China.
Division of Cell, Developmental and Integrative Biology, School of Medicine, South China University of Technology, Guangzhou 510006, China.
Comput Struct Biotechnol J. 2023 Feb 24;21:1738-1745. doi: 10.1016/j.csbj.2023.02.040. eCollection 2023.
As an emerging concept, liquid-liquid phase separation (LLPS) in biological systems has shed light on the formation mechanisms of membrane-less compartments in cells. The process is driven by multivalent interactions of biomolecules such as proteins and/or nucleic acids, allowing them to form condensed structures. In the inner ear hair cells, LLPS-based biomolecular condensate assembly plays a vital role in the development and maintenance of stereocilia, the mechanosensing organelles located at the apical surface of hair cells. This review aims to summarize recent findings on the molecular basis governing the LLPS of Usher syndrome-related gene-encoding proteins and their binding partners, which may ultimately result in the formation of upper tip-link density and tip complex density in hair cell stereocilia, offering a better understanding of this severe inherited disease that causes deaf-blindness.
作为一个新兴概念，生物系统中的液-液相分离（LLPS）揭示了细胞中无膜区室的形成机制。该过程由蛋白质和/或核酸等生物分子的多价相互作用驱动，使它们能够形成凝聚结构。在内耳毛细胞中，基于液-液相分离的生物分子凝聚体组装在静纤毛的发育和维持中起着至关重要的作用，静纤毛是位于毛细胞顶端表面的机械传感细胞器。本综述旨在总结关于与Usher综合征相关的基因编码蛋白及其结合伴侣的液-液相分离分子基础的最新研究结果，这些研究结果最终可能导致毛细胞静纤毛中上端连接密度和顶端复合体密度的形成，从而更好地理解这种导致失聪失明的严重遗传性疾病。
