Predictive Identification of Exonic Splicing Enhancers in Human Genes

• William G. Fairbrother

  Department of Biology,

• Ru-Fang Yeh

  Department of Biology,

• Phillip A. Sharp

  Department of Biology,

• Christopher B. Burge

  Department of Biology,

抄録

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.

収録刊行物

• Science

  Science 297 (5583), 1007-1013, 2002-08-09

  American Association for the Advancement of Science (AAAS)

キーワード

• Multidisciplinary

詳細情報

• CRID: 1362825893427954304
• NII論文ID: 80015499453
• DOI: 10.1126/science.1073774
• ISSN: 10959203
• ISSN: 00368075
• Web Site: https://www.science.org/doi/pdf/10.1126/science.1073774
• データソース種別:
  • Crossref
  • CiNii Articles