Epigenetic ‘reader’ proteins, which have evolved to interact with specific chromatin modifications, play pivotal roles in gene regulation. There is growing interest in the alternative splicing mechanisms that affect the functionality of such epigenetic readers in cancer etiology. The current review considers how deregulation of epigenetic processes and alternative splicing events contribute to pathophysiology. An A–Z guide of epigenetic readers is provided, delineating the antagonistic ‘yin-yang’ roles of full-length versus spliced isoforms, where this is known from the literature. The examples discussed underscore the key contributions of epigenetic readers in transcriptional regulation, early development, and cancer. Clinical implications are considered, offering insights into precision oncology and targeted therapies focused on epigenetic readers that have undergone alternative splicing events during disease pathogenesis. This review underscores the fundamental importance of alternative splicing events in the context of epigenetic readers while emphasizing the critical need for improved understanding of functional diversity, regulatory mechanisms, and future therapeutic potential.
表观遗传"阅读器"蛋白通过与特定染色质修饰相互作用，在基因调控中发挥关键作用。这些表观遗传阅读器在癌症发生过程中受可变剪接机制影响的功能变化日益受到关注。本文综述了表观遗传过程失调与可变剪接事件如何共同影响疾病病理生理机制，系统梳理了表观遗传阅读器的完整图谱，阐明全长亚型与剪接异构体在文献中已知的拮抗性"阴阳"调控作用。所讨论的例证凸显了表观遗传阅读器在转录调控、早期发育和癌症进程中的核心贡献。本文进一步探讨了临床转化意义，为精准肿瘤学及针对疾病发生过程中经历可变剪接的表观遗传阅读器的靶向治疗提供新见解。本综述不仅强调了可变剪接事件在表观遗传阅读器研究中的基础重要性，同时指出亟需深化对其功能多样性、调控机制及未来治疗潜力的系统性认知。
肿瘤(癌症)患者之家