Briganti Francesca, Wang Zilu
Division of Genetics, Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA.
Division of Cardiology, Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA.
Int J Mol Sci. 2024 Dec 4;25(23):13023. doi: 10.3390/ijms252313023.
Alternative splicing allows a single gene to produce a variety of protein isoforms. Changes in splicing isoform usage characterize virtually every stage of the differentiation process and define the physiological differences between cardiomyocytes with different function, at different stages of development, and pathological function. Recent identification of cardiac splicing factors provided insights into the mechanisms underlying alternative splicing and revealed how these splicing factors impact functional properties of the heart. Alterations of the splicing of sarcomeric genes, cell signaling proteins, and ion channels have been associated with the development of pathological conditions such as cardiomyopathy and arrhythmia. RBM20, RBM24, PTBP1, RBFOX, and QKI play key roles in cardiac development and pathology. A better understanding of their regulation will yield insights into healthy cardiac development and inform the development of molecular therapeutics.
可变剪接使单个基因能够产生多种蛋白质异构体。剪接异构体使用情况的变化几乎表征了分化过程的每个阶段，并定义了不同功能、不同发育阶段以及病理功能的心肌细胞之间的生理差异。最近对心脏剪接因子的鉴定为可变剪接的潜在机制提供了见解，并揭示了这些剪接因子如何影响心脏的功能特性。肌节基因、细胞信号蛋白和离子通道的剪接改变与心肌病和心律失常等病理状况的发展有关。RBM20、RBM24、PTBP1、RBFOX和QKI在心脏发育和病理过程中发挥关键作用。更好地理解它们的调控将有助于深入了解健康的心脏发育，并为分子治疗的发展提供依据。
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