Fig. 1.

Overview of the imprinted domains on chromosome 11p15.5. Given are the two imprinting control regions (ICRs) on chromosome 11p15.5. The centromeric KCNQ1OT1:TSS-DMR is methylated on the maternal allele (grey square). It regulates the expression of the maternally expressed genes KCNQ1, KCNQ1DN, CDKN1C and SLC22A18 (depicted in red) and the paternally expressed KCNQ1OT1 (blue). The biallelically expressed gene PHLDA2 is shown in black. The telomeric H19/IGF2:IG-DMR is methylated on the paternal allele with the maternally expressed H19 and the paternally expressed IGF2 gene. Tel telomeric, cen centromeric. Modified from Beygo et al. 2016