An element in intron 1 of the CFTR gene augments intestinal expression in vivo

Rebecca K. Rowntree, Georges Vassaux, Tarra L. McDowell, Steve Howe, Amanda McGuigan, Marios Phylactides, Clare Huxley, Ann Harris*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

57 Scopus citations


The elements controlling the complex developmental and tissue-specific expression of the cystic fibrosis transmembrane conductance regulator (CFTR) gene lie outside the basal promoter region and have not been characterized. We previously identified a tissue-specific DNase I hypersensitive site (DHS) in intron 1 (185 + 10 kb) of the CFTR gene. Here we show that removal of the core element abolishes the activity of this DHS in transient transfection assays of reporter/enhancer gene constructs. We then compared expression from a 310 kb yeast artificial chromosome (YAC) that contains the entire CFTR gene with expression from the same YAC from which the DHS element had been deleted. Stable transfection of a human colon carcinoma cell line showed that transcription from the deleted YAC was reduced by ∼60%. In transgenic mice, deletion of the intron 1 DHS had no effect on expression in the lung, but reduced expression in the intestine by ∼60%. Thus, the regulatory element associated with the intron 1 DHS is tissue-specific and is required for normal CFTR expression levels in the intestinal epithelium in vivo.

Original languageEnglish (US)
Pages (from-to)1455-1464
Number of pages10
JournalHuman molecular genetics
Issue number14
StatePublished - Jul 1 2001

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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