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Article

Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

American journal of human genetics - 1 Aug 2002

Hefferon Timothy W, Broackes-Carter Fiona C, Harris Ann, Cutting Garry R

Abstract excerpt

The molecular basis of the skipping of constitutive exons in many messenger RNAs is not fully understood. A well-studied example is exon 9 of the human cystic fibrosis transmembrane conductance regulator gene (CFTR), in which an abbreviated polypyrimidine tract between the branch point A and the 3' splice site is associated with increased exon skipping and disease. However, many exons, both in CFTR and in other...

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Identifiers

PMID: 12068373
DOI: 10.1086/341664
PMCID: PMC379162

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.PMID 12068373Read ↗

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic ElementSemantic proximity Read ↗

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.Semantic proximity Read ↗

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Skipping of exon 9 of human CFTR in YAC-transgenic mice.Semantic proximity Read ↗

A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing.Semantic proximity Read ↗

Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations.Semantic proximity Read ↗

Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.Semantic proximity Read ↗

An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing.Semantic proximity Read ↗

Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA.Semantic proximity Read ↗

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