Alternative splicing in disease
Alternative splicing in disease
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DOI：
10.1007/978-0-387-77374-2_13
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发表时间：
2007-01-01
期刊：
影响因子：
--
通讯作者：
Cooper, Thomas A.
中科院分区：
文献类型：
--
作者：
Orengo, James P.;Cooper, Thomas A.
选择性剪接是人类蛋白质组多样性的主要来源。选择性剪接的调节调节这种多样性的组成，以满足细胞的生理需求。当选择性剪接的控制被破坏时，结果可能是不能满足细胞和组织的要求，从而导致功能障碍和疾病。有几个很好的例子，其中选择性剪接的破坏是疾病的原因。对选择性剪接的错误调节如何导致疾病的调查补充了对正常调节过程的调查，并增强了我们对一般调节机制的理解。最终，了解选择性剪接在疾病中是如何改变的，将有助于逆转或规避错误调节的剪接事件的策略。
Alternative splicing is a major source of diversity in the human proteome. The regulation of alternative splicing modulates the composition of this diversity to fulfill the physiological requirements of a cell. When control of alternative splicing is disrupted, the result can be a failure to meet cellular and tissue requirements resulting in dysfunction and disease. There are several well-characterized examples in which disruption of alternative splicing is a cause of disease. Investigations into how the mis-regulation of alternative splicing causes disease complements investigations of normal regulatory processes and enhances our understanding of regulatory mechanisms in general. Ultimately, an understanding of how alternative splicing is altered in disease will facilitate strategies directed at reversing or circumventing mis-regulated splicing events.