Novel long-range regulatory mechanisms controlling PKD2 gene expression.

ABSTRACT:

Background

Cis-regulatory elements control gene expression over large distances through the formation of chromatin loops, which allow contact between enhancers and gene promoters. Alterations in cis-acting regulatory systems could be linked to human genetic diseases. Here, we analyse the spatial organization of a large region spanning the polycystic kidney disease 2 (PKD2) gene, one of the genes responsible of autosomal dominant polycystic kidney disease (ADPKD).

Results

By using chromosome conformation capture carbon copy (5C) technology in primary human renal cyst epithelial cells, we identify novel contacts of the PKD2 promoter with chromatin regions, which display characteristics of regulatory elements. In parallel, by using functional analysis with a reporter assay, we

SUBMITTER: Moisan S 

PROVIDER: S-EPMC6038307 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature