The cystic fibrosis gene: a molecular genetic perspective

Cold Spring Harb Perspect Med. 2013 Feb 1;3(2):a009472. doi: 10.1101/cshperspect.a009472.


The positional cloning of the gene responsible for cystic fibrosis (CF) was the important first step in understanding the basic defect and pathophysiology of the disease. This study aims to provide a historical account of key developments as well as factors that contributed to the cystic fibrosis transmembrane conductance regulator (CFTR) gene identification work. A redefined gene structure based on the full sequence of the gene derived from the Human Genome Project is presented, along with brief reviews of the transcription regulatory sequences for the CFTR gene, the role of mRNA splicing in gene regulation and CF disease, and, various related sequences in the human genome and other species. Because CF mutations and genotype-phenotype correlations are covered by our colleagues (Ferec C, Cutting GR. 2012. Assessing the disease-liability of mutations in CFTR. Cold Spring Harb Perspect Med doi: 10.1101/cshperspect.a009480), we only attempt to provide an introduction of the CF mutation database here for reference purposes.

Publication types

  • Review

MeSH terms

  • Alternative Splicing / genetics
  • Animals
  • Cloning, Molecular
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / chemistry
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / isolation & purification
  • Databases, Genetic
  • Disease Models, Animal
  • Exons / genetics
  • Humans
  • Mice
  • Mutation / genetics*
  • Promoter Regions, Genetic / genetics
  • Terminology as Topic
  • Trans-Splicing / genetics
  • Transcription, Genetic / genetics


  • Cystic Fibrosis Transmembrane Conductance Regulator