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Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

Nature Genetics volume 3, pages 151–156 (1993)Cite this article

Abstract

Variable in–frame skipping of exon 9 in cystic fibrosis transmembrane conductance regulator (CFTR) mRNA transcripts (exon 9−) occurs in the respiratory epithelium. To explore the genetic basis of this event, we evaluated respiratory epithelial cells and blood leukocytes from 124 individuals (38 with cystic fibrosis (CF), 86 without CF). We found an inverse relationship between the length of the polythymidine tract at the exon 9 splice branch/acceptor site and the proportion of exon 9− CFTR mRNA transcripts. These results strongly indicate a genetic basis in vivo modulating post–transcriptional processing of CFTR mRNA transcripts.

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Authors and Affiliations

  1. Pulmonary Branchy National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, 20892, USA

    Chin-Shyan Chu, Bruce C. Trapnell & Ronald G. Crystal

  2. Department of Pediatrics and Center for Medical Genetics, Johns Hopkins Hospital, Baltimore, Maryland

    Sheila Curristin & Garry R. Cutting

Authors
  1. Chin-Shyan Chu
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  2. Bruce C. Trapnell
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  3. Sheila Curristin
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  4. Garry R. Cutting
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  5. Ronald G. Crystal
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Chu, CS., Trapnell, B., Curristin, S. et al. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 3, 151–156 (1993). https://doi.org/10.1038/ng0293-151

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