Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases
Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases
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DOI：
10.1016/s0968-0004(00)01549-8
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发表时间：
2000-03-01
影响因子：
13.8
通讯作者：
Blencowe, BJ
中科院分区：
文献类型：
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作者：
Blencowe, BJ
外显子剪接增强子（Exonic splicing enhancers，ESEs）是外显子中的一种独立序列，它促进组成型剪接和调节型剪接。然而，最近的研究为这个问题提供了深入的见解，并提出了一种新的ESE功能模型。最近的其他工作表明，ESE由不同的序列组成，并且经常出现在外显子内。不祥的是，后面的这些研究预测，许多与突变有关的人类遗传疾病可能是由ESE的失活引起的。
Exonic splicing enhancers (ESEs) are discrete sequences within exons that promote both constitutive and regulated splicing, The precise mechanism by which ESEs facilitate the assembly of splicing complexes has been controversial. However, recent studies have provided insights into this question and have led to a new model for ESE function, Other recent work has suggested that ESEs are comprised of diverse sequences and occur frequently within exons, Ominously, these latter studies predict that many human genetic diseases linked to mutations within exons might be caused by the inactivation of ESEs.