CUG-BP, Elav-like family (CELF)-mediated alternative splicing regulation in the brain during health and disease.
CUG-BP, Elav-like family (CELF)-mediated alternative splicing regulation in the brain during health and disease.
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DOI：
10.1016/j.mcn.2012.12.003
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发表时间：
2013-09
期刊：
影响因子：
--
通讯作者：
Ladd AN
中科院分区：
文献类型：
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作者：
Ladd AN
选择性剪接是产生转录本和蛋白质多样性的重要机制。在大脑中，选择性剪接特别普遍，并且选择性剪接因子高度富集。这些包括CUG-BP，Elav-like家族（CELF）的六个成员。本文综述了已知的不同CELF蛋白在神经系统中的表达，以及它们在神经发育和功能中重要的证据。参与CELF蛋白的发病机制的一些神经退行性疾病，包括强直性肌营养不良症，脊髓小脑共济失调，脆性X综合征，脊髓性肌萎缩症，脊髓和延髓肌肉萎缩症进行了讨论。最后，CELF介导的选择性剪接调节在神经系统和这些剪接事件的功能后果的已知目标进行了审查。这篇文章是题为“RNA和剪接调节神经变性”的特刊的一部分。
Alternative splicing is an important mechanism for generating transcript and protein diversity. In the brain, alternative splicing is particularly prevalent, and alternative splicing factors are highly enriched. These include the six members of the CUG-BP, Elav-like family (CELF). This review summarizes what is known about the expression of different CELF proteins in the nervous system and the evidence that they are important in neural development and function. The involvement of CELF proteins in the pathogenesis of a number of neurodegenerative disorders, including myotonic dystrophy, spinocerebellar ataxia, fragile X syndrome, spinal muscular atrophy, and spinal and bulbar muscular atrophy is discussed. Finally, the known targets of CELF-mediated alternative splicing regulation in the nervous system and the functional consequences of these splicing events are reviewed. This article is part of a Special Issue entitled “RNA and splicing regulation in neurodegeneration”.