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Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions.

Abstract：

: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.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Ho PY,Huang MZ,Fwu VT,Lin SC,Hsiao KJ,Su TS

doi

10.1016/j.bbrc.2008.06.072

subject

Has Abstract

pub_date

2008-09-05 00:00:00

pages

515-20

issue

4

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(08)01207-2

journal_volume

373

pub_type

杂志文章

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