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. 2012 Oct 1;7(10):1142–1150. doi: 10.4161/epi.21937

graphic file with name epi-7-1142-g6.jpg

Figure 6. Schematic representation of the chromosome 14q32.2 imprinted region in a control subject, cases 1 and 2 with upd(14)pat, case 3 with a microdeletion (indicated by stippled rectangles), and case 4 with two copies of the imprinted region of paternal origin and a single copy of the imprinted region of maternal origin. This figure has been constructed using the present results and the previous data.2,3 P, paternally derived chromosome; M, maternally derived chromosome. Filled and open circles represent hypermethylated and hypomethylated DMRs, respectively; since the MEG3-DMR is grossly hypomethylated and regarded as non-DMR in the placenta, it is painted in gray. PEGs (DLK1 and RTL1) are shown in blue, MEGs (MEG3, RTL1as, MEG8, snoRNAs and miRNAs) in red, a probably non-imprinted gene (DIO3) in black, and non-expressed genes in white. Thick arrows for RTL1 in cases 1–3 represent increased RTL1 expression that is ascribed to loss of functional microRNA-containing RTL1as as a repressor for RTL1.