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.

journal_name

FEBS Lett

journal_title

FEBS letters

authors

Skoko N,Baralle M,Buratti E,Baralle FE

doi

10.1016/j.febslet.2008.05.018

subject

Has Abstract

pub_date

2008-06-25 00:00:00

pages

2231-6

issue

15

eissn

0014-5793

issn

1873-3468

pii

S0014-5793(08)00420-1

journal_volume

582

pub_type

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