IMR Press / FBE / Volume 4 / Issue 2 / DOI: 10.2741/e401

Frontiers in Bioscience-Elite (FBE) is published by IMR Press from Volume 13 Issue 2 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with Frontiers in Bioscience.


Transcriptional regulation of CFTR gene expression

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1 Human Molecular Genetics Program, Children’s Memorial Research Center, and Department of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago IL, USA

*Author to whom correspondence should be addressed.

Academic Editor: Jian-Min Chen

Front. Biosci. (Elite Ed) 2012, 4(2), 587–592;
Published: 1 January 2012
(This article belongs to the Special Issue Frontiers in the research on cystic fibrosis and CFTR)

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 cis-acting 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.

cystic fibrosis transmembrance conductance regulator (CFTR)
gene regulation
cis-acting elements
chromatin looping
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