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

Chin Shyan Chu, Bruce C. Trapnell, Sheila Curristin, Garry R. Cutting, Ronald Crystal

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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.

Original languageEnglish
Pages (from-to)151-156
Number of pages6
JournalNature Genetics
Issue number2
Publication statusPublished - 1 Jan 1993
Externally publishedYes


ASJC Scopus subject areas

  • Genetics

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