(A) A schematic representation of the wild-type H19/Igf2 cluster in mouse. The maternally expressed H19 and the paternally expressed Igf2 genes are shown in red and blue, respectively. Black lollipops on the paternal allele represent DNA methylation. The maternal imprinting control region (ICR) is bound to CTCF proteins (pink hexagons) at CTCF-binding sites, forming an insulator that blocks the maternal Igf2 promoter from the shared enhancers (green circles). These enhancers interact with the H19 promoter on the maternal allele and Igf2 promoter on the paternal allele. (B) Schematic of the mouse endogenous H19/Igf2 ICR, H19hIC1 (shortened as hIC1; Hur et al., 2016), H19Δ2.8kb-H19 (shortened as Δ H19), and H19
Δ3.8kb-5’H19 (shortened as Δ 3.8; Thorvaldsen et al., 2002; Thorvaldsen et al., 2006) alleles. Restriction site locations (kb) are relative to the H19 transcription start site. Gray lines on the ICR represent conserved CTCF-binding sequences.