Fig. 7: Imbalanced allelic gene expression is associated with identified bimodal methylation.
From: Atlas of imprinted and allele-specific DNA methylation in the human body
A Genes showing biased allelic expression (GTEx) are enriched for regions of bimodal methylation (in matched cell types; blue bars) compared to random genes (red). B Allele-specific read counts of phased expression from GTEx are shown using density plots, for the biallelically expressed MYL4 gene in heart samples (left), for the monoallelically and known imprinted gene IGF2 in colon samples, and for PRKRA in pancreas samples, where 85% of expressed samples (>100 total read count) show mono-allelic expression along the two axes. C The proportion of mostly unmethylated reads (avg. methylation per fragment ≤35%, green), of mixed-methylation reads (orange), and of mostly methylated reads (avg. methylation per fragment ≥65%, red) at the MYL4 intronic enhancer in cardiomyocytes (left), at the known imprinted DMR of IGF2 colon epithelial cells (center), and at a putative parental-ASM region 60Kb downstream of PRKRA in pancreatic acinar cells (right).
