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

Research output: Contribution to journalArticle

411 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)151-156
Number of pages6
JournalNature Genetics
Volume3
Issue number2
DOIs
Publication statusPublished - 1 Jan 1993
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics

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