RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons
RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons
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DOI：
10.1093/nar/gkh393
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发表时间：
2004-07-01
影响因子：
14.9
通讯作者：
Burge, CB
中科院分区：
文献类型：
--
作者：
Fairbrother, WG;Yeo, GW;Burge, CB
一个典型的基因包含两个层次的信息：编码特定蛋白质的序列和转录本正确表达所必需的许多其他信号。虽然序列变异对氨基酸序列的影响一直备受关注，但破坏基因加工信号的变异会显著影响基因功能。例如，破坏外显子剪接增强子（ESE）的变异可能导致外显子跳跃，这将导致从mRNA转录物中排除整个外显子。RESCUE-ESE是一种结合实验验证使用的计算方法，以前在人类基因中确定了238个候选ESE六聚体。RESCUE-ESE方法最近已在另外三个物种中实施：小鼠、斑马鱼和河豚。在这里，我们描述了一个在线ESE分析工具（http：//genes.mit.edu/burgelab/rescue-ese/），该工具注释了脊椎动物外显子中的RESCUE-ESE六聚体，并可用于通过鉴定破坏或改变预测的ESE的序列变化来预测剪接表型。
A typical gene contains two levels of information: a sequence that encodes a particular protein and a host of other signals that are necessary for the correct expression of the transcript. While much attention has been focused on the effects of sequence variation on the amino acid sequence, variations that disrupt gene processing signals can dramatically impact gene function. A variation that disrupts an exonic splicing enhancer (ESE), for example, could cause exon skipping which would result in the exclusion of an entire exon from the mRNA transcript. RESCUE-ESE, a computational approach used in conjunction with experimental validation, previously identified 238 candidate ESE hexamers in human genes. The RESCUE-ESE method has recently been implemented in three additional species: mouse, zebrafish and pufferfish. Here we describe an online ESE analysis tool (http://genes.mit.edu/burgelab/rescue-ese/) that annotates RESCUE-ESE hexamers in vertebrate exons and can be used to predict splicing phenotypes by identifying sequence changes that disrupt or alter predicted ESEs.