Predictive Identification of Exonic Splicing Enhancers in Human Genes.
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| Title: | Predictive Identification of Exonic Splicing Enhancers in Human Genes. |
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| Authors: | Fairbrother, William G., Ru-Fang Yeh, Sharp, Phillip A., Burge, Christopher B. |
| Source: | Science (pre-March 2025). 8/9/2002, Vol. 297 Issue 5583, p1007-1013. 7p. 3 Diagrams, 1 Chart, 4 Graphs. |
| Subjects: | Exons (Genetics), Genetic mutation |
| 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. [ABSTRACT FROM AUTHOR] |
| Copyright of Science (pre-March 2025) is the property of American Association for the Advancement of Science and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: pbh DbLabel: Psychology and Behavioral Sciences Collection An: 7351133 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Predictive Identification of Exonic Splicing Enhancers in Human Genes. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Fairbrother%2C+William+G%2E%22">Fairbrother, William G.</searchLink><br /><searchLink fieldCode="AR" term="%22Ru-Fang+Yeh%22">Ru-Fang Yeh</searchLink><br /><searchLink fieldCode="AR" term="%22Sharp%2C+Phillip+A%2E%22">Sharp, Phillip A.</searchLink><br /><searchLink fieldCode="AR" term="%22Burge%2C+Christopher+B%2E%22">Burge, Christopher B.</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Science+%28pre-March+2025%29%22">Science (pre-March 2025)</searchLink>. 8/9/2002, Vol. 297 Issue 5583, p1007-1013. 7p. 3 Diagrams, 1 Chart, 4 Graphs. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22Exons+%28Genetics%29%22">Exons (Genetics)</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: 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. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Science (pre-March 2025) is the property of American Association for the Advancement of Science and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=7351133 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1126/science.1073774 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 7 StartPage: 1007 Subjects: – SubjectFull: Exons (Genetics) Type: general – SubjectFull: Genetic mutation Type: general Titles: – TitleFull: Predictive Identification of Exonic Splicing Enhancers in Human Genes. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Fairbrother, William G. – PersonEntity: Name: NameFull: Ru-Fang Yeh – PersonEntity: Name: NameFull: Sharp, Phillip A. – PersonEntity: Name: NameFull: Burge, Christopher B. IsPartOfRelationships: – BibEntity: Dates: – D: 09 M: 08 Text: 8/9/2002 Type: published Y: 2002 Identifiers: – Type: issn-print Value: 00368075 Numbering: – Type: volume Value: 297 – Type: issue Value: 5583 Titles: – TitleFull: Science (pre-March 2025) Type: main |
| ResultId | 1 |
