Nucleic Acids Research, 2003, Vol. 31, No. 13 3568-3571
© 2003 Oxford University Press
ESEfinder: a web resource to identify exonic splicing enhancers
Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA
*To whom correspondence should be addressed. Tel: +1 516 3678417; Fax: +1 516 3678453; Email: krainer{at}cshl.edu
Point mutations frequently cause genetic diseases by disrupting the correct pattern of pre-mRNA splicing. The effect of a point mutation within a coding sequence is traditionally attributed to the deduced change in the corresponding amino acid. However, some point mutations can have much more severe effects on the structure of the encoded protein, for example when they inactivate an exonic splicing enhancer (ESE), thereby resulting in exon skipping. ESEs also appear to be especially important in exons that normally undergo alternative splicing. Different classes of ESE consensus motifs have been described, but they are not always easily identified. ESEfinder (http://exon.cshl.edu/ESE/) is a web-based resource that facilitates rapid analysis of exon sequences to identify putative ESEs responsive to the human SR proteins SF2/ASF, SC35, SRp40 and SRp55, and to predict whether exonic mutations disrupt such elements.
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S. Spena, M. L. Tenchini, and E. Buratti Cryptic splice site usage in exon 7 of the human fibrinogen B{beta}-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon RNA, June 1, 2006; 12(6): 948 - 958. [Abstract] [Full Text] [PDF]
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A Warrington, A R Vieira, K Christensen, I M Orioli, E E Castilla, P A Romitti, and J C Murray Genetic evidence for the role of loci at 19q13 in cleft lip and palate. J. Med. Genet., June 1, 2006; 43(6): e26 - e26. [Abstract] [Full Text] [PDF]
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R. Agrawal and G. D. Stormo Using mRNAs lengths to accurately predict the alternatively spliced gene products in Caenorhabditis elegans Bioinformatics, May 15, 2006; 22(10): 1239 - 1244. [Abstract] [Full Text] [PDF]
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X. Zhong, J. R. Liu, J. W. Kyle, D. A. Hanck, and W. S. Agnew A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies Hum. Mol. Genet., May 1, 2006; 15(9): 1497 - 1512. [Abstract] [Full Text] [PDF]
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J. Vadolas, M. Nefedov, H. Wardan, S. Mansooriderakshan, L. Voullaire, D. Jamsai, R. Williamson, and P. A. Ioannou Humanized beta-Thalassemia Mouse Model Containing the Common IVSI-110 Splicing Mutation J. Biol. Chem., March 17, 2006; 281(11): 7399 - 7405. [Abstract] [Full Text] [PDF]
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A. Disset, C.F. Bourgeois, N. Benmalek, M. Claustres, J. Stevenin, and S. Tuffery-Giraud An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements Hum. Mol. Genet., March 15, 2006; 15(6): 999 - 1013. [Abstract] [Full Text] [PDF]
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N. Elleuch, C. Depienne, A. Benomar, A. M. O. Hernandez, X. Ferrer, B. Fontaine, D. Grid, C.M.E. Tallaksen, R. Zemmouri, G. Stevanin, et al. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia Neurology, March 14, 2006; 66(5): 654 - 659. [Abstract] [Full Text] [PDF]
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S.-N. Grellscheid and C. W. J. Smith An Apparent Pseudo-Exon Acts both as an Alternative Exon That Leads to Nonsense-Mediated Decay and as a Zero-Length Exon. Mol. Cell. Biol., March 1, 2006; 26(6): 2237 - 2246. [Abstract] [Full Text] [PDF]
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