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SOX5：从发育到多系统疾病调控的核心转录因子

胡广璇¹, 杨旸², 郭金仕³, 栗晓颖³, 常波⁴, 衣雪洁^3,*

¹辽宁师范大学体育学院，大连 116029；²北京大学医学部，北京 100083；³沈阳体育学院运动健康学院，沈阳 110102；⁴珠海科技学院体育科学学院，珠海 519041

摘要

SOX5作为SOX转录因子家族重要成员，广泛参与多种生理和病理过程。SOX5通过其HMG-box DNA结合域与特定DNA序列相互作用，调控细胞分化、增殖和发育过程中的关键基因表达。SOX5 在软骨发育中扮演重要角色；在神经系统发育中对神经元的迁移和分化具有关键调节作用；在生殖系统中，影响性腺发育和精子形成。在疾病方面，SOX5的缺陷与Lamb-Shaffer 综合征、2型糖尿病和呼吸系统疾病密切相关。此外，在癌症进展中，SOX5 通过调控多种信号通路促进或抑制不同类型癌细胞的增殖和迁移。本综述总结SOX5 在多系统中的生理和病理作用机制，并展望其在疾病治疗靶点开发方面的应用潜力。

关键词： SOX5; 软骨发育; 免疫调节; 癌症进展; Lamb-Shaffer综合征

SOX5: A core transcription factor from development to multi-system disease regulation

HU Guang-Xuan¹, YANG Yang², GUO Jin-Shi³, LI Xiao-Ying³, CHANG Bo⁴, YI Xue-Jie^3,*

¹School of Physical Education, Liaoning Normal University, Dalian 116029, China；²Peking University Health Science Center, Beijing 100083, China；³School of Exercise and Health, Shenyang Sport University, Shenyang 110102, China；⁴School of Sports Science, Zhuhai College of Science and Technology, Zhuhai 519041, China

Abstract

SOX5, as an important member of the SOX transcription factor family, is widely involved in various physiological and pathological processes. SOX5 regulates the expression of key genes involved in cell differentiation, proliferation, and development by interacting with specific DNA sequences through its HMG-box DNA-binding domain. SOX5 plays a critical role in cartilage development; it has a key regulatory effect on neuronal migration and differentiation in the nervous system; and it influences gonad development and spermatogenesis in the reproductive system. In terms of diseases, defects in SOX5 are closely associated with Lamb- Shaffer syndrome, type 2 diabetes, and respiratory system diseases. Furthermore, SOX5 plays a role in cancer progression by modulating various signaling pathways to promote or inhibit the proliferation and migration of different types of cancer cells. This review summarizes the physiological and pathological mechanisms of SOX5 in multiple systems and explores its potential as a therapeutic target for disease treatment.

Key words: SOX5; cartilage development; immune modulation; cancer progression; Lamb-Shaffer syndrome

收稿日期：　　录用日期：

通讯作者：衣雪洁　　E-mail:

DOI: 10.13294/j.aps.2025.0080

引用本文：

胡广璇, 杨旸, 郭金仕, 栗晓颖, 常波, 衣雪洁. SOX5：从发育到多系统疾病调控的核心转录因子[J]. 生理学报 2025; 77 (6): 1009-1022.

HU Guang-Xuan, YANG Yang, GUO Jin-Shi, LI Xiao-Ying, CHANG Bo, YI Xue-Jie. SOX5: A core transcription factor from development to multi-system disease regulation. Acta Physiol Sin 2025; 77 (6): 1009-1022 (in Chinese with English abstract).