Predictive Identification of Exonic Splicing Enhancers in Human Genes

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...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 2002-08, Vol.297 (5583), p.1007-1013
Main Authors: Fairbrother, William G., Yeh, Ru-Fang, Sharp, Phillip A., Burge, Christopher B.
Format: Article
Language:English
Subjects:
Algorithms
Analysis
Biological and medical sciences
Complementary DNA
Computation
Computational Biology
Consensus Sequence
Databases, Nucleic Acid
DNA, Complementary
Exon (Molecular genetics)
Exons
Exons (Molecular genetics)
Fundamental and applied biological sciences. Psychology
Genes
Genetic mutation
Genetic research
Genetic transcription
Genetics
Genome, Human
Humans
Hypoxanthine Phosphoribosyltransferase - genetics
Introns
Literary Devices
Molecular and cellular biology
Molecular genetics
Oligonucleotides
Oligonucleotides - genetics
Phenotypes
Point Mutation
Predictions
Regulatory Sequences, Nucleic Acid
Representation letters
Reverse transcriptase polymerase chain reaction
Ribonucleic acid
RNA
RNA Splicing
Sequence Analysis, DNA
Splicing
Statistical Analysis
Statistical Significance
Transcription (Genetics)
Transcription. Transcription factor. Splicing. Rna processing
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Summary: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.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.1073774