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

Skoko Natasa | Zendy; Baralle Marco | Zendy; Buratti Emanuele | Zendy; Baralle Francisco E. | Zendy

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

Author(s) -

Skoko Natasa,

Baralle Marco,

Buratti Emanuele,

Baralle Francisco E.

Publication year - 2008

Publication title -

febs letters

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.593

H-Index - 257

eISSN - 1873-3468

pISSN - 0014-5793

DOI - 10.1016/j.febslet.2008.05.018

Subject(s) - exon , rna splicing , mutation , context (archaeology) , alternative splicing , splicing factor , exonic splicing enhancer , genetics , biology , point mutation , rna , microbiology and biotechnology , gene , paleontology

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.

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