The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors.

@article{Skoko2008ThePS,
  title={The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors.},
  author={Nata{\vs}a Skoko and Marco Baralle and Emanuele Buratti and Francisco E. Baralle},
  journal={FEBS letters},
  year={2008},
  volume={582 15},
  pages={
          2231-6
        }
}
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… CONTINUE READING
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