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A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons

✍ Scribed by C.K. Ridout; P. Keighley; S. Krywawych; R.M. Brown; G.K. Brown

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
300 KB
Volume
29
Category
Article
ISSN
1059-7794

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✦ Synopsis

A nonsense mutation (c.729C>A, Y243X) in exon 7 of the PDHA1 gene in a patient with pyruvate dehydrogenase deficiency results in aberrant splicing of the primary transcript with production of stable mRNAs which lack either both exons 6 and 7 or exon 7 alone. Transfection and expression of genomic constructs covering exons 5 to 8 of the mutant PDHA1 gene reproduced this aberrant splicing in vitro. The same pattern of abnormal splicing was found when a silent mutation was introduced at the same position. Both the nonsense and silent mutations alter a strong consensus site for the binding of SRp40, suggesting that they may interfere with an exonic splicing enhancer in exon 7 of the gene. However, this appears to affect splicing of not only exon 7, but also the adjacent upstream exon. The splice acceptor site of intron 5 has weak homology to the consensus sequence and this may contribute to the combined splicing defect.

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