Disruption of OTC Promoter-enhancer Interaction in a Patient with Symptoms of Ornithine Carbamoyltransferase Deficiency
2010
Abstract
Transcription start sites, promoter and enhancer regions of the of human OTC gene are described. We report the first patient in which the only variation found was a nucleotide substitution in promoter region.
We found that transcriptional activity of human OTC promoter depends on an upstream enhancer. The promoter – enhancer interaction contributes to tissue specific expression of OTC in the liver.
A unique nucleotide substitution in the promoter does not affect the function of the promoter alone but it disrupts its interaction with the enhancer.