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Bioinformatics Advance Access originally published online on November 14, 2006
Bioinformatics 2007 23(2):150-155; doi:10.1093/bioinformatics/btl575
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© The Author 2006. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Complementary intron sequence motifs associated with human exon repetition: a role for intragenic, inter-transcript interactions in gene expression

Richard J. Dixon 1,*, Ian C. Eperon 2 and Nilesh J. Samani 1

1 Department of Cardiovascular Sciences Leicester, LE3 9Q, UK
2 Department of Biochemistry, University of Leicester Leicester, LE3 9Q, UK

*To whom correspondence should be addressed.


   Abstract

Motivation: Exon repetition describes the presence of tandemly repeated exons in mRNA in the absence of duplications in the genome. The regulation of this process is not fully understood. We therefore investigated the entire flanking intronic sequences of exons involved in exon repetition for common sequence elements.

Results: A computational analysis of 48 human single exon repetition events identified two common sequence motifs. One of these motifs is pyrimidine-rich and is more common in the upstream intron, whilst the other motif is highly enriched in purines and is more common in the downstream intron. As the two motifs are complementary to each other, they support a model by which exon repetition occurs as a result of trans-splicing between separate pre-mRNA transcripts from the same gene that are brought together during transcription by complementary intronic sequences. The majority of the motif instances overlap with the locations of mobile elements such as Alu elements. We explore the potential importance of complementary intron sequences in a rat gene that undertakes natural exon repetition in a strain specific manner. The possibility that distant complementary sequences can stimulate inter-transcript splicing during transcription suggests an unsuspected new role for potential secondary structures in endogenous genes.

Availability:

Contact: rd67{at}le.ac.uk

Supplementary information: Supplementary data are available at Bioinformatics online.

Associate Editor: Martin Bishop


Received on September 5, 2006; revised on October 13, 2006; accepted on November 8, 2006

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