选择性剪接是多细胞真核生物转录组高度复杂性的主要贡献者。在本综述中，我们讨论了累积证据表明大部分这种复杂性都反映在蛋白质水平上，并从根本上塑造了生物体的生理学和病理学。这种观念不仅得到了基因组范围内的分析支持，而且还得到了详细研究的支持，显示出选择性剪接的全局和基因特异性调节调控高度多样的过程，例如组织特异性和物种特异性细胞分化、热调节、神经元自我避让、红外感知、华伯格效应、端粒长度维持、癌症和⾎⽂特异性障碍（ASD）等，我们还讨论了如何掌握选择性剪接的控制为遗传性疾病开发出临床认可的治疗方法。© 2022 Springer Nature Limited。

Alternative splicing is a substantial contributor to the high complexity of transcriptomes of multicellular eukaryotes. In this Review, we discuss the accumulated evidence that most of this complexity is reflected at the protein level and fundamentally shapes the physiology and pathology of organisms. This notion is supported not only by genome-wide analyses but, mainly, by detailed studies showing that global and gene-specific modulations of alternative splicing regulate highly diverse processes such as tissue-specific and species-specific cell differentiation, thermal regulation, neuron self-avoidance, infrared sensing, the Warburg effect, maintenance of telomere length, cancer and autism spectrum disorders (ASD). We also discuss how mastering the control of alternative splicing paved the way to clinically approved therapies for hereditary diseases.© 2022. Springer Nature Limited.