Figure 4 |. Placement of a MAB21L1 enhancer-like element adjacent to PDK3 along der(13).
a, MAB21L1 locus showing bulk DNase-seq and H3K27ac ChIP-seq (top), as well as haplotype-resolved Fiber-seq chromatin accessibility and full-length cDNA transcripts from patient-derived retinal organoids (bottom). Single chromatin accessibility peak pair with significant single-molecule co-actuated chromatin accessibility is shown, exposing a downstream enhancer-like element for MAB21L1 isoform 1 promoter. b, Chromatin accessibility of the MAB21L1 isoform 1 promoter, as well as the downstream enhancer-like element in patient-derived fibroblasts and retinal organoids (left), as well as their haplotype-specific accessibility in patient-derived retinal organoids (right). c, Bar plot and western blot showing PDK3 and beta-actin protein levels within patient-derived retinal organoids, as well as age-matched control retinal organoids. * p-value 0.0183 (T test) d, MAB21L1 locus along the der(13) and chr13int chromosomes showing the placement of a strong MAB21L1 enhancer-like element in proximity to the PDK3 promoter selectively along the der(13) haplotype.