Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

Figure 4

Visualization of interactions around the position of chromosomal break on chr20. (a) View of the translocation region showing GeneHancer data including the position of enhancer ID GH20J017996 (grey rectangle) which is predicted to interact with the OVOL2 promoter GH20J018055 (red rectangle). Light blue vertical line indicates the location of the breakpoint. (b) More detailed view of the region showing also ENCODE candidate cis-regulatory elements (note the direct interruption of EH38E2101181) in addition to the GeneHancer data. Light blue vertical line indicates the location of the breakpoint. Yellow rectangles represent a distal enhancer-like signature; blue rectangle, the CTCF binding site; and pink rectangle, the DNase-H3K4me3 mark.

(a)

(b)