ArticleThe Journal of biological chemistry2009
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Article in The Journal of biological chemistry, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 40 citations in OpenAlex.
- Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant.PloS one · 2025Article
- Article
- Splicing mutations in the CFTR gene as therapeutic targets.Gene therapy · 2022Review
- In silico identification of pseudo-exon activation events in personal genome and transcriptome data.RNA biology · 2021Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.Genes · 2020Review
- Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing.Cells · 2019Review
- Deep intronic mutations and human disease.Human genetics · 2017Review
- Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.Journal of human genetics · 2016Article
- Global identification of hnRNP A1 binding sites for SSO-based splicing modulation.BMC biology · 2016Article
- Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.Nucleic acids research · 2015Article
- Follicle-stimulating hormone receptor (FSHR) alternative skipping of exon 2 or 3 affects ovarian response to FSH.Molecular human reproduction · 2014Article
- A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girl.BMJ case reports · 2012Article
- Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.Asian journal of andrology · 2010Article
- Global analysis reveals SRp20- and SRp75-specific mRNPs in cycling and neural cells.Nature structural & molecular biology · 2010Article
- A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis.The Journal of molecular diagnostics : JMD · 2010Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystic fibrosis (CF) is a common recessive disorder caused by >1600 mutations in the CF transmembrane conductance regulator (CFTR) gene. About 13% of CFTR mutations are classified as "splicing mutations," but for almost 40% of these, their role in affecting the pre-mRNA splicing of the gene is not yet defined. In this work, we describe a new splicing mutation detected in three unrelated Italian CF patients. By DNA analyses and mRNA studies, we identified the c.1002-1110_1113delTAAG mutation localized in intron 6b of the CFTR gene. At the mRNA level, this mutation creates an aberrant inclusion of a sequence of 101 nucleotides between exons 6b and 7. This sequence corresponds to a portion of intron 6b and resembles a cryptic exon because it is characterized by an upstream ag and a downstream gt sequence, which are most probably recognized as 5'- and 3'-splice sites by the spliceosome. Through functional analysis of this splicing defect, we show that this mutation abolishes the interaction of the splicing regulatory protein heterogeneous nuclear ribonucleoprotein A2/B1 with an intronic splicing regulatory element and creates a new recognition motif for the SRp75 splicing factor, causing activation of the cryptic exon. Our results show that the c.1002-1110_1113delTAAG mutation creates a new intronic splicing regulatory element in intron 6b of the CFTR gene exclusively recognized by SRp75.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.