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. Author manuscript; available in PMC: 2017 Oct 6.
Published in final edited form as: Cell. 2016 Sep 22;167(2):341–354.e12. doi: 10.1016/j.cell.2016.08.071

Figure 5. Homozygous INDEL within a HAR that interacts with promoter region of essential splicing regulator, PTBP2.

Figure 5

a) Homozygous GGGTAC>A mutation between PTBP2 and DPYD with enhancer activity in fetal brain tissues (ChromHMM) and several TF motifs from TF-chip and chromatin interactions (4C-seq) with the promoter region of PTBP2. The INDEL is located within b) predicted TF motifs in the reference genome, c) causing their loss. Luciferase analysis of the mutant (Mt) and reference (Wt) HAR using a minimal promoter revealed d) no change in neural progenitor-like cells, while e) co-transfection with DN-REST resulted in a 50% decrease in activity.