DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor binding

Rebecca Rowntree, Ann Harris*

*Corresponding author for this work

Research output: Contribution to journalArticle

22 Scopus citations

Abstract

Over one thousand mutations have been identified to date in the cystic fibrosis transmembrane conductance regulator gene (CFTR); however, about 5-10% of mutations remain undefined. It is likely that some of these undefined mutations occur within regulatory elements for the CFTR gene. Tissue-specific regulatory elements for CFTR are located outside the basal promoter region and may be associated with DNase I hypersensitive sites (DHS). We previously described a DHS at +15.6 kb 3′ to the CFTR gene, which showed tissue specificity in vivo and was evaluated as a candidate regulatory element for CFTR. Polymorphisms in regulatory elements may have a significant effect on their activity and hence on the levels of gene expression. Two C→T polymorphisms were identified within the +15.6 kb region that occurred on both cystic fibrosis (CF) and non-CF alleles. Both of the polymorphisms altered DNA-protein binding, as shown by electrophoretic mobility shift assays (EMSA). These changes in transcription factor binding at a putative regulatory region could influence CFTR gene expression.

Original languageEnglish (US)
Pages (from-to)66-74
Number of pages9
JournalHuman Genetics
Volume111
Issue number1
DOIs
StatePublished - Jul 1 2002

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor binding'. Together they form a unique fingerprint.

  • Cite this