| Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions. | |
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MedLine Citation:
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PMID: 18590700 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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To simultaneously assess the effects of exonic mutations on RNA splicing and protein functions, we report here an intron-inclusive cDNA (Intinc) expression system. As a test model, twenty-four mutations in exon 9 of the phenylalanine hydroxylase (PAH) gene were examined in an Intinc expression plasmid composed of the PAH cDNA with the exon 9 flanked by its authentic introns. When the PAH enzyme activities from the Intinc plasmid-transfected cells were compared to those of a standard cDNA expression system, five mutations resulted in significant relative differences in PAH activities attributed to altered exon 9-inclusive mRNA levels. Two of the mutations affected exon recognition probably through splice site modifications and the remaining three affected experimentally verified exon splicing enhancer (ESE) motifs. The Intinc expression system allows not only a better link between mutation genotype to disease phenotype but also contributes to further understanding of molecular mechanisms of deleterious effects of mutations. |
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Authors:
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Po-yi Ho; Miao-Zeng Huang; Victor Tramjay Fwu; Sheng-Chieh Lin; Kwang-Jen Hsiao; Tsung-Sheng Su |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2008-06-30 |
Journal Detail:
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Title: Biochemical and biophysical research communications Volume: 373 ISSN: 1090-2104 ISO Abbreviation: Biochem. Biophys. Res. Commun. Publication Date: 2008 Sep |
Date Detail:
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Created Date: 2008-07-28 Completed Date: 2008-08-25 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0372516 Medline TA: Biochem Biophys Res Commun Country: United States |
Other Details:
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Languages: eng Pagination: 515-20 Citation Subset: IM |
Affiliation:
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Faculty of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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DNA Mutational Analysis
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methods* DNA, Complementary / genetics Exons* Genotype Humans Introns Mutation* Phenotype Phenylalanine Hydroxylase / genetics, metabolism RNA Splicing* |
| Chemical | |
Reg. No./Substance:
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0/DNA, Complementary; EC 1.14.16.1/Phenylalanine Hydroxylase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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