Journal
FEBS LETTERS
Volume 582, Issue 15, Pages 2231-2236Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.febslet.2008.05.018
Keywords
NF1; exonic splicing enhancers; exonic splicing silencers; YB-1; hnRNPA1; hnRNPA2; DAZAP1
Funding
- Telethon [GGP06147] Funding Source: Medline
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We have previously identified an ESE in NF1 exon 37 whose disruption by the pathological mutation c.6792C > G caused aberrant splicing. We now investigate the RNA-protein complexes affected by the c.6792C > G mutation observing that this concurrently decreases the affinity for the positive splicing factor YB-1 and increases the affinity for the negative splicing factors, hnRNPA1, ImRNPA2 and a new player in these type of complexes, DAZAP1. Our findings highlight the complexity of the interplay between positive and negative factors in the exon inclusion/skipping outcome. Furthermore, our observations stress the role of a wide genomic context in NF1 exon 37 definition. (C) 2008 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.
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