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首页> 外文期刊>Zeitschrift fur Arznei- und Gewurzpflanzen >Long-read sequencing reveals the complex splicing profile of the psychiatric risk gene CACNA1C in human brain
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Long-read sequencing reveals the complex splicing profile of the psychiatric risk gene CACNA1C in human brain

机译：读取测序显示人脑中精神病风险基因CACNA1C的复杂拼接轮廓

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摘要

RNA splicing is a key mechanism linking genetic variation with psychiatric disorders. Splicing profiles are particularly diverse in brain and difficult to accurately identify and quantify. We developed a new approach to address this challenge, combining long-range PCR and nanopore sequencing with a novel bioinformatics pipeline. We identify the full-length coding transcripts of CACNA1C in human brain. CACNA1C is a psychiatric risk gene that encodes the voltage-gated calcium channel Ca(v)1.2. We show that CACNA1C's transcript profile is substantially more complex than appreciated, identifying 38 novel exons and 241 novel transcripts. Importantly, many of the novel variants are abundant, and predicted to encode channels with altered function. The splicing profile varies between brain regions, especially in cerebellum. We demonstrate that human transcript diversity (and thereby protein isoform diversity) remains under-characterised, and provide a feasible and cost-effective methodology to address this. A detailed understanding of isoform diversity will be essential for the translation of psychiatric genomic findings into pathophysiological insights and novel psychopharmacological targets.
机译：RNA拼接是将遗传变异与精神疾病联系起来的关键机制。拼接轮廓在大脑中特别多样化，难以准确识别和量化。我们开发了一种解决这一挑战的新方法，将远程PCR和纳米孔测序与新型生物信息化管道相结合。我们识别人脑中CaCNA1c的全长编码转录物。 CaCNA1c是一种精神病风险基因，它们编码电压门控钙通道Ca（v）1.2。我们表明CACNA1C的转录性曲线显着比较复杂，鉴定38个新的外显子和241个新的转录物。重要的是，许多新型变体都是丰富的，并预测以改变功能的编码通道。拼接轮廓在脑区域之间变化，特别是在小脑中。我们证明人体转录物的多样性（从而蛋白质同种型多样性）仍然是特征的特征，并提供可行且经济高效的方法来解决这一点。详细了解同种型多样性，对精神科学发现转化为病理生理学洞察和新型精神武装理解目标是必不可少的。

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