The CFTR gene and regulation of its expression

Victoria A. McCarthy, Ann Harris*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

56 Scopus citations

Abstract

The cystic fibrosis transmembrane conductance regulator gene (CFTR) shows clear temporal and developmental regulation of its expression. However, there are few well-defined regulatory elements that control this pattern of expression, and their mechanism of action is poorly understood. We review the structure and organization of the CFTR gene and what is known about its regulation. The CFTR gene promoter is clearly important for maintaining levels of CFTR gene expression, but apparently it does not contain any tissue-specific elements. Thus tissue-specificity is probably controlled by sequences lying elsewhere in this large gene. We discuss data from our group and others implicating additional regions of CFTR in regulatory functions, and evaluate candidate transcription factors that may be involved. Further, we summarize aspects of the regulation of the developmental expression of CFTR. Definition of CFTR gene regulatory elements could be of considerable therapeutic significance, since only a small increase in CFTR expression in the correct cell type could alleviate the disease phenotype.

Original languageEnglish (US)
Pages (from-to)1-8
Number of pages8
JournalPediatric Pulmonology
Volume40
Issue number1
DOIs
StatePublished - Jul 1 2005

Keywords

  • CFTR
  • Regulation of gene expression

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine

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