The stop mutation R553X in the CFTR gene results in exon skipping

Journal Article · Sat Jan 15 04:00:00 EST 1994 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1070· OSTI ID:7076030

Hull, J; Shackleton, S; Harris, A ^[1]

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1. Institute of Molecular Medicine, Oxford (United Kingdom)

Stop or nonsense mutations are known to disrupt gene function in a number of different ways. The authors have studied the effects of the stop mutation R553X in exon 11 of the CFTR gene by analyzing mRNA extracted from nasal epithelial cells harvested from patients with cystic fibrosis. Four patients who were compound heterozygotes for the R553X mutation were studied. Ten non-CF control subjects were also studied. In all four patients, full-length CFTR mRNA was identified, but only a very small proportion of this was derived from the R553X allele. A smaller transcript, lacking exon 11, was also seen in the R553X patients but not in the controls. Most of this transcript was derived from the R553X allele. These results suggest that the R553X mutation results in skipping of the exon in which it is located. 14 refs., 3 figs.

• OSTI ID: 7076030
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 19:2; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
550900 -- Pathology
59 BASIC BIOLOGICAL SCIENCES
DNA SEQUENCING
ETIOLOGY
FIBROSIS
GENE MUTATIONS
MEMBRANE PROTEINS
MUTATIONS
ORGANIC COMPOUNDS
PATHOLOGICAL CHANGES
PROTEINS
STRUCTURAL CHEMICAL ANALYSIS