ArticleNucleic acids research2004
hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes.
Article in Nucleic acids research, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed.
- CRYSPER and CUREIPES: two new molecular tools enabling analysis of RNA splicing and C-to-U RNA editing-inducible protein expression at single cell resolution.Nucleic acids research · 2026Article
- The Drosophila hnRNP F/H Homolog Glorund Uses Two Distinct RNA-Binding Modes to Diversify Target Recognition.Cell reports · 2017Article
- A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.International journal of molecular sciences · 2016Article
- TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor.Human molecular genetics · 2016Article
- Age-dependent Effects of 17β-estradiol on the dynamics of estrogen receptor β (ERβ) protein-protein interactions in the ventral hippocampus.Molecular & cellular proteomics : MCP · 2014Article
- HnRNP A1 controls a splicing regulatory circuit promoting mesenchymal-to-epithelial transition.Nucleic acids research · 2013Article
- An intronic G run within HIV-1 intron 2 is critical for splicing regulation of vif mRNA.Journal of virology · 2013Article
- HnRNPH1/H2, U1 snRNP, and U11 snRNP cooperate to regulate the stability of the U11-48K pre-mRNA.RNA (New York, N.Y.) · 2013Article
- Pick one, but be quick: 5' splice sites and the problems of too many choices.Genes & development · 2013Review
- Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript.PloS one · 2013Article
- A G-rich element forms a G-quadruplex and regulates BACE1 mRNA alternative splicing.Journal of neurochemistry · 2012Article
- Genome-wide characterization of new and drought stress responsive microRNAs in Populus euphratica.Journal of experimental botany · 2011Article
- G Run-mediated recognition of proteolipid protein and DM20 5' splice sites by U1 small nuclear RNA is regulated by context and proximity to the splice site.The Journal of biological chemistry · 2011Article
- Heterogeneous nuclear ribonucleoprotein H1/H2-dependent unsplicing of thymidine phosphorylase results in anticancer drug resistance.The Journal of biological chemistry · 2011Article
- Sam68 regulates EMT through alternative splicing-activated nonsense-mediated mRNA decay of the SF2/ASF proto-oncogene.The Journal of cell biology · 2010Article
- Structural basis of G-tract recognition and encaging by hnRNP F quasi-RRMs.Nature structural & molecular biology · 2010Article
- The intronic splicing code: multiple factors involved in ATM pseudoexon definition.The EMBO journal · 2010Article
- Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12.Nucleic acids research · 2010Article
- hnRNP A1 and hnRNP H can collaborate to modulate 5' splice site selection.RNA (New York, N.Y.) · 2010Article
- An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.Journal of inherited metabolic disease · 2009Article
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Authors and funding
7 authors.
Funding
Abstract
We have recently reported a disease-causing substitution (+5G > C) at the donor site of NF-1 exon 3 that produces its skipping. We have now studied in detail the splicing mechanism involved in analyzing RNA-protein complexes at several 5' splice sites. Characteristic protein patterns were observed by pulldown and band-shift/super-shift analysis. Here, we show that hnRNP H binds specifically to the wild-type GGGgu donor sequence of the NF-1 exon 3. Depletion analyses shows that this protein restricts the accessibility of U1 small nuclear ribonucleoprotein (U1snRNA) to the donor site. In this context, the +5G > C mutation abolishes both U1snRNP base pairing and the 5' splice site (5'ss) function. However, exon recognition in the mutant can be rescued by disrupting the binding of hnRNP H, demonstrating that this protein enhances the effects of the +5G > C substitution. Significantly, a similar situation was found for a second disease-causing +5G > A substitution in the 5'ss of TSHbeta exon 2, which harbors a GGgu donor sequence. Thus, the reason why similar nucleotide substitutions can be either neutral or very disruptive of splicing function can be explained by the presence of specific binding signatures depending on local contexts.
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