Transcriptional regulation of CFTR gene expression.
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.
Human Molecular Genetics Program, Children's Memorial Research Center, and Department of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago IL, USA.
Austin E
AE
Gillen
Ann
A
Harris
D002874:Chromosome Mapping; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004742:Enhancer Elements, Genetic; D005786:Gene Expression Regulation; D006801:Humans; D011401:Promoter Regions, Genetic; D012045:Regulatory Sequences, Nucleic Acid; D014158:Transcription, Genetic
D019005:Cystic Fibrosis Transmembrane Conductance Regulator