ArticleNucleic acids research1995
A T to G mutation in the polypyrimidine tract of the second intron of the human beta-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP C interaction.
Article in Nucleic acids research, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Circular RNA circ-FIRRE interacts with HNRNPC to promote esophageal squamous cell carcinoma progression by stabilizing GLI2 mRNA.Cancer science · 2023Article
- An analysis of the role of HnRNP C dysregulation in cancers.Biomarker research · 2022Review
- Proteome-wide data analysis reveals tissue-specific network associated with SARS-CoV-2 infection.Journal of molecular cell biology · 2020Article
- Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.BioMed research international · 2016Article
- Article
- Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.Heart rhythm · 2009Article
- A novel function for the U2AF 65 splicing factor in promoting pre-mRNA 3'-end processing.EMBO reports · 2002Article
- A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.American journal of human genetics · 1998Article
- Oligonucleotide binding specificities of the hnRNP C protein tetramer.Nucleic acids research · 1998Article
- Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.American journal of human genetics · 1996Article
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In a patient with a beta-thalassemia intermedia, a mutation was identified in the second intron of the human beta-globin gene. The U-->G mutation is located within the polypyrimidine tract at position -8 upstream of the 3' splice site. In vivo, this mutation leads to decreased levels of the hemoglobin protein. Because of the location of the mutation and the role of the polypyrimidine tract in the splicing process, we performed in vitro splicing assays on the pre-messenger RNA (pre-mRNA). We found that the splicing efficiency of the mutant pre-mRNA is reduced compared to the wild type and that no cryptic splice sites are activated. Analysis of splicing complex formation shows that the U-->G mutation affects predominantly the progression of the H complex towards the pre-spliceosome complex. By cross-linking and immunoprecipitation assays, we show that the hnRNP C protein interacts more efficiently with the mutant precursor than with the wild-type. This stronger interaction could play a role, directly or indirectly, in the decreased splicing efficiency.
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