生物
选择性拼接
RNA剪接
外显子
转录因子
组蛋白
神经科学
转录调控
基因
基因亚型
表观遗传学
神经元
基因表达调控
抄写(语言学)
遗传学
核糖核酸
语言学
哲学
作者
Robert S. Porter,Farris Jaamour,Shigeki Iwase
标识
DOI:10.1016/j.mcn.2017.10.006
摘要
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.
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