ESEfinder: a web resource to identify exonic splicing enhancers
ESEfinder: a web resource to identify exonic splicing enhancers
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DOI：
10.1093/nar/gkg616
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发表时间：
2003-07-01
影响因子：
14.9
通讯作者：
Krainer, AR
中科院分区：
文献类型：
--
作者：
Cartegni, L;Wang, JH;Krainer, AR
点突变经常通过破坏前体mRNA剪接的正确模式而引起遗传疾病。编码序列内的点突变的影响传统上归因于相应氨基酸中的推断变化。然而，一些点突变可能对编码蛋白质的结构产生更严重的影响，例如当它们破坏外显子剪接增强子（ESE）时，从而导致外显子跳跃。在通常进行选择性剪接的外显子中，ESE似乎也特别重要。已经描述了不同类别的ESE共有基序，但它们并不总是容易识别的。ESEfinder（http：//exon.cshl.edu/ESE/）是一种基于网络的资源，其促进外显子序列的快速分析，以鉴定对人SR蛋白SF 2/ASF、SC 35、SRp 40和SRp 55应答的推定的ESE，并预测外显子突变是否破坏这些元件。
Point mutations frequently cause genetic diseases by disrupting the correct pattern of pre-mRNA splicing. The effect of a point mutation within a coding sequence is traditionally attributed to the deduced change in the corresponding amino acid. However, some point mutations can have much more severe effects on the structure of the encoded protein, for example when they inactivate an exonic splicing enhancer (ESE), thereby resulting in exon skipping. ESEs also appear to be especially important in exons that normally undergo alternative splicing. Different classes of ESE consensus motifs have been described, but they are not always easily identified. ESEfinder (http://exon.cshl.edu/ESE/) is a web-based resource that facilitates rapid analysis of exon sequences to identify putative ESEs responsive to the human SR proteins SF2/ASF, SC35, SRp40 and SRp55, and to predict whether exonic mutations disrupt such elements.