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.
journal_name
FEBS Lettjournal_title
FEBS lettersauthors
Skoko N,Baralle M,Buratti E,Baralle FEdoi
10.1016/j.febslet.2008.05.018subject
Has Abstractpub_date
2008-06-25 00:00:00pages
2231-6issue
15eissn
0014-5793issn
1873-3468pii
S0014-5793(08)00420-1journal_volume
582pub_type
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