The brain has long been known to display the most complex pattern of alternative splicing, thereby producing diverse protein isoforms compared to other tissues. Recent evidence indicates that many alternative exons are neuron-specific, evolutionarily conserved, and found in regulators of transcription including DNA-binding protein and histone modifying enzymes. This raises a possibility that neurons adopt unique mechanisms of transcription. Given that transcriptional machineries are frequently mutated in neurodevelopmental disorders with cognitive dysfunction, it is important to understand how neuron-specific alternative splicing contributes to proper transcriptional regulation in the brain. In this review, we summarize current knowledge regarding how neuron-specific splicing events alter the function of transcriptional regulators and shape unique gene expression patterns in the brain and the implications of neuronal splicing to the pathophysiology of neurodevelopmental disorders.

长期以来，人们就知道大脑会显示出最复杂的可变剪接模式，从而与其他组织相比，会产生多种蛋白质同工型。最近的证据表明，许多其他外显子是神经元特异性的，在进化上是保守的，并且在包括DNA结合蛋白和组蛋白修饰酶在内的转录调节子中发现。这增加了神经元采用独特的转录机制的可能性。鉴于转录机制经常在具有认知功能障碍的神经发育障碍中发生突变，因此重要的是要了解神经元特异性的选择性剪接如何促进大脑中适当的转录调控。在这篇评论中，