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人类基因中外显子剪接增强子的预测性识别。

Predictive identification of exonic splicing enhancers in human genes.

作者信息

Fairbrother William G, Yeh Ru-Fang, Sharp Phillip A, Burge Christopher B

机构信息

Department of Biology, Center for Cancer Research, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.

出版信息

Science. 2002 Aug 9;297(5583):1007-13. doi: 10.1126/science.1073774. Epub 2002 Jul 11.


DOI:10.1126/science.1073774
PMID:12114529
Abstract

Specific short oligonucleotide sequences that enhance pre-mRNA splicing when present in exons, termed exonic splicing enhancers (ESEs), play important roles in constitutive and alternative splicing. A computational method, RESCUE-ESE, was developed that predicts which sequences have ESE activity by statistical analysis of exon-intron and splice site composition. When large data sets of human gene sequences were used, this method identified 10 predicted ESE motifs. Representatives of all 10 motifs were found to display enhancer activity in vivo, whereas point mutants of these sequences exhibited sharply reduced activity. The motifs identified enable prediction of the splicing phenotypes of exonic mutations in human genes.

摘要

当外显子中存在特定的短寡核苷酸序列时,这些序列可增强前体mRNA剪接,被称为外显子剪接增强子(ESE),它们在组成型剪接和可变剪接中发挥重要作用。一种名为RESCUE-ESE的计算方法被开发出来,该方法通过对外显子-内含子和剪接位点组成进行统计分析来预测哪些序列具有ESE活性。当使用人类基因序列的大数据集时,该方法识别出10个预测的ESE基序。发现所有10个基序的代表在体内均表现出增强子活性,而这些序列的点突变体活性则大幅降低。所识别出的基序能够预测人类基因中外显子突变的剪接表型。

相似文献

[1]
Predictive identification of exonic splicing enhancers in human genes.

Science. 2002-8-9

[2]
Distribution of exonic splicing enhancer elements in human genes.

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[3]
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Hum Mutat. 2004-12

[4]
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[5]
Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms.

Breast Cancer Res. 2005

[6]
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Nucleic Acids Res. 2004-3-19

[7]
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[8]
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BMC Genomics. 2006-12-8

[9]
Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.

Breast Cancer Res Treat. 2008-7

[10]
A strong exonic splicing enhancer in dystrophin exon 19 achieve proper splicing without an upstream polypyrimidine tract.

J Biochem. 2008-3

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[6]
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[7]
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[8]
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