Transcriptional regulation of CFTR gene expression

Austin E. Gillen, Ann Harris*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


Cystic Fibrosis results from mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The gene was identified in 1989, but more than 20 years later, the regulatory mechanisms controlling its complex expression are still not fully understood. Though the promoter binds transcription factors and drives some aspects of CFTR gene expression, it cannot alone account for tissue specific control. This implicates other distal cisacting elements in cell-type-specific regulation of CFTR expression. Several of these elements, including intronic enhancers and flanking insulators, were identified within or near the CFTR locus. Here we summarize the known regulatory mechanisms controlling CFTR transcription, including those acting through elements in the promoter and others elsewhere in the locus. A special focus will be elements that contribute to tissue specific regulation of expression.

Original languageEnglish (US)
Pages (from-to)587-592
Number of pages6
JournalFrontiers in Bioscience - Elite
Volume4 E
Issue number2
StatePublished - Jan 1 2012


  • Chromatin looping
  • Cis-acting elements
  • Cystic fibrosis transmembrance conductance regulator (CFTR)
  • Gene regulation
  • Insulators

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Microbiology(all)

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