title: The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors.
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.
authors.affiliation: International Centre for Genetic Engineering and Biotechnology (ICGEB), Padriciano 99, Trieste, Italy.
authors.forename: Natasa
authors.initials: N
authors.lastname: Skoko
authors.forename: Marco
authors.initials: M
authors.lastname: Baralle
authors.forename: Emanuele
authors.initials: E
authors.lastname: Buratti
authors.forename: Francisco E
authors.initials: FE
authors.lastname: Baralle
mesh_terms: D017398:Alternative Splicing; D004268:DNA-Binding Proteins / Q000037:antagonists & inhibitors / Q000378:metabolism; D005091:Exons; D000076245:Heterogeneous Nuclear Ribonucleoprotein A1; D034481:Heterogeneous-Nuclear Ribonucleoprotein Group A-B / Q000037:antagonists & inhibitors / Q000378:metabolism; D006801:Humans; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000378:metabolism; D025542:Neurofibromin 1 / Q000235:genetics*; D009687:Nuclear Proteins / Q000037:antagonists & inhibitors / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000037:antagonists & inhibitors / Q000378:metabolism; D051840:Y-Box-Binding Protein 1
chemical_list: C412481:DAZAP1 protein, human; D004268:DNA-Binding Proteins; D000076245:Heterogeneous Nuclear Ribonucleoprotein A1; D034481:Heterogeneous-Nuclear Ribonucleoprotein Group A-B; D025542:Neurofibromin 1; D009687:Nuclear Proteins; D016601:RNA-Binding Proteins; D051840:Y-Box-Binding Protein 1; C070856:YBX1 protein, human; C439768:hnRNP A2; C000619656:hnRNPA1 protein, human