Skip to main content
. 2016 Feb 17;7(10):10765–10772. doi: 10.18632/oncotarget.7458

Figure 2. Dyskeratosis congenita is associated with hypermethylation in PRDM8.

Figure 2

A. Scatter plots of mean DNAm levels (four DKC patients as compared to four age and gender matched controls) depict 764 hypo- and 1,369 hyper-methylated CpGs in DKC (adjusted P value < 0.05; relevant CpGs of PRDM8 are indicated in red). B. DNAm levels (beta-values) of CpGs associated with PRDM8 reflect hypermethylation at an internal promoter region in DKC patients (as compared to DNAm profiles of normal blood). The positions of two relevant CpGs are indicated (cg19409579 and cg27242132). C. Boxplots represent distributions of beta-values at cg27242132 in four DKC samples and 4,131 DNAm profiles of blood samples of 16 different studies (see also supplemental Figure 3). The 99 percentile of controls is indicated as dotted line (DNAm level of 52%). D. Quantitative RT-PCR reveals moderate down-regulation of PRDM8 expression in DKC patients (n = 5; two-sided Student's t-test; P = 0.0197). E. MassARRAY analysis of DNAm at cg27242132 (PRDM8) revealed consistent DNAm levels in neighboring CpGs (controls: n = 10; AA: n = 27; DKC: n = 11). F. In comparison to normal controls the DNAm levels at the CpG site cg27242132 were significantly higher in AA (P = 1.49E-05) and particularly in DKC patients (P = 2.51E-06).