ArticleBMC genomics2018
Novel long-range regulatory mechanisms controlling PKD2 gene expression.
Article in BMC genomics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- A guide to studying 3D genome structure and dynamics in the kidney.Nature reviews. Nephrology · 2025Review
- The Long-Range Chromosomal Interaction Controlling Klotho Gene Expression in Human Chronic Kidney Disease.ACS omega · 2024Article
- Transcription factor FoxM1 promotes cyst growth in PKD1 mutant ADPKD.Human molecular genetics · 2023Article
- Characterization of GJB2 cis-regulatory elements in the DFNB1 locus.Human genetics · 2019Article
- Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundCis-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).
resultsBy 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 demonstrate that three DNAse I hypersensitive sites regions are involved in the regulation of PKD2 gene expression.
conclusionsFinally, through alignment of CCCTC-binding factor (CTCF) sites, we suggest that these novel enhancer elements are brought to the PKD2 promoter by chromatin looping via the recruitment of CTCF.
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