Brief ReportA Crouzon Syndrome Synonymous Mutation Activates a 5′ Splice Site within the IIIC Exon of the FGFR2 Gene
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Code inside the codon: The role of synonymous mutations in regulating splicing machinery and its impact on disease
2022, Mutation Research - Reviews in Mutation ResearchManoeuvring protein functions and functional levels by structural excursions
2020, Phenotypic Switching: Implications in Biology and MedicineIdentification of an intronic splicing enhancer essential for the inclusion of FGFR2 exon IIIc
2008, Journal of Biological ChemistryCitation Excerpt :DISE and IAS1 Are Interchangeable Elements—Next, we asked whether or not DISE could activate another weak exon, and we tested this using the rat FGFR2 exon IIIb. Although it is found in the same transcript and is a cognate of FGFR2 IIIc, exon IIIb has evolved very different splice site sequences and regulation (17). Exon IIIb offered an additional advantage, because it is also activated by a well-characterized ISE, IAS1 (18-20).
Polypyrimidine Tract-binding Protein Represses Splicing of a Fibroblast Growth Factor Receptor-2 Gene Alternative Exon through Exon Sequences
2001, Journal of Biological ChemistryCitation Excerpt :We wished to determine whether oligo 2's action was position-dependent and decided to insert it into the exon's EcoRV site (Fig.4 A). The BEK exon contains a weak alternative 5′ splice site (Figs. 2 and 4 A, 5'ss-2) (35), and the EcoRV site lies between this alternative 5′ splice site and the normal 5′ splice site (Figs. 2 and 4 A,5'ss-1). To avoid any possible effect of oligonucleotide insertion on 5′ splice site 2 use interfering with our analysis (see below), 5′ splice site 2 was inactivated by point mutation prior to insertion of oligo 2.
Fibroblast growth factors, their receptors and receptor disorders
1997, Journal of Cranio-Maxillo-Facial Surgery