Figure 3
From: A novel large deletion of the ICR1 region including H19 and putative enhancer elements
Comparative methylation plots and heatmaps for the IGF2 DMR0. (A) Schematic view of the IGF2 DMR0 and the location of the amplicon used for deep bisulfite sequencing (black bar; not drawn to scale). The exact position for the amplicon is chr11:2169292-2169605 (hg19, UCSC Browser). (B) The average methylation of the IGF2 DMR0 in the patient, his parents and a normal control. Compared to the father and the normal control (NC) the mother and the patient show a hypermethylation for the IGF2 DMR0. (C) The average methylation of the separated alleles (SNP rs3741210) in a normal control and the patient. One allele of the normal control is hypermethylated (indicating that it represents the paternal allele), whereas the other allele is hypomethylated (indicating that it representing the maternal allele). In the patient the paternal allele (A) is hypermethylated and the maternal allele (G), which should be hypomethylated, is hypermethylated as well. Each square represents a CpG dinucleotide with its average methylation level, each line a specific sample. The average methylation over the analyzed region is given in percentage on the left under the sample ID together with the number of analyzed reads in brackets. The methylation was analyzed over 6 CpGs.