Abstract
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, hnRNPA2 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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Alternative Splicing*
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DNA-Binding Proteins / antagonists & inhibitors
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DNA-Binding Proteins / metabolism
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Exons*
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Heterogeneous Nuclear Ribonucleoprotein A1
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Heterogeneous-Nuclear Ribonucleoprotein Group A-B / antagonists & inhibitors
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Heterogeneous-Nuclear Ribonucleoprotein Group A-B / metabolism
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Humans
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Mutation*
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Neurofibromatosis 1 / genetics*
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Neurofibromatosis 1 / metabolism
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Neurofibromin 1 / genetics*
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Nuclear Proteins / antagonists & inhibitors
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Nuclear Proteins / metabolism
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RNA-Binding Proteins / antagonists & inhibitors
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RNA-Binding Proteins / metabolism
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Y-Box-Binding Protein 1
Substances
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DAZAP1 protein, human
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DNA-Binding Proteins
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Heterogeneous Nuclear Ribonucleoprotein A1
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Heterogeneous-Nuclear Ribonucleoprotein Group A-B
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Neurofibromin 1
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Nuclear Proteins
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RNA-Binding Proteins
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Y-Box-Binding Protein 1
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YBX1 protein, human
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hnRNP A2
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hnRNPA1 protein, human