Article
Tissue-specific regulation of the mouse Pkhd1 (ARPKD) gene promoter.
American journal of physiology. Renal physiology - 1 Aug 2014
Williams Scott S, Cobo-Stark Patricia, Hajarnis Sachin, Aboudehen Karam, Shao Xinli, Richardson James A, Patel Vishal, Igarashi Peter
Abstract excerpt
Autosomal recessive polycystic kidney disease, an inherited disorder characterized by the formation of cysts in renal collecting ducts and biliary dysgenesis, is caused by mutations of the polycystic kidney and hepatic disease 1 (PKHD1) gene. Expression of PKHD1 is tissue specific and developmentally regulated. Here, we show that a 2.0-kb genomic fragment containing the proximal promoter of mouse Pkhd1 directs...
Topics
- Animals
- Biliary Tract
- Cells, Cultured
- Epithelial Cells
- Hepatocyte Nuclear Factor 1-beta
- Kidney Tubules, Collecting
- Male
- Mice
- Mice, Inbred C57BL
- Mice, Transgenic
- Mutation
- Polycystic Kidney, Autosomal Recessive
- Promoter Regions, Genetic