| First Author | Rowntree RK | Year | 2001 |
| Journal | Hum Mol Genet | Volume | 10 |
| Issue | 14 | Pages | 1455-64 |
| PubMed ID | 11448937 | Mgi Jnum | J:133123 |
| Mgi Id | MGI:3777838 | Doi | 10.1093/hmg/10.14.1455 |
| Citation | Rowntree RK, et al. (2001) An element in intron 1 of the CFTR gene augments intestinal expression in vivo. Hum Mol Genet 10(14):1455-64 |
| abstractText | The elements controlling the complex developmental and tissue-specific expression of the cystic fibrosis transmembrane conductance regulator (CFTR) gene lie outside the basal promoter region and have not been characterized. We previously identified a tissue-specific DNase I hypersensitive site (DHS) in intron 1 (185 + 10 kb) of the CFTR gene. Here we show that removal of the core element abolishes the activity of this DHS in transient transfection assays of reporter/enhancer gene constructs. We then compared expression from a 310 kb yeast artificial chromosome (YAC) that contains the entire CFTR gene with expression from the same YAC from which the DHS element had been deleted. Stable transfection of a human colon carcinoma cell line showed that transcription from the deleted YAC was reduced by approximately 60%. In transgenic mice, deletion of the intron 1 DHS had no effect on expression in the lung, but reduced expression in the intestine by approximately 60%. Thus, the regulatory element associated with the intron 1 DHS is tissue-specific and is required for normal CFTR expression levels in the intestinal epithelium in vivo. |
