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Fig. 2 | Clinical Epigenetics

Fig. 2

From: PRDM8 reveals aberrant DNA methylation in aging syndromes and is relevant for hematopoietic and neuronal differentiation

Fig. 2

Hypermethylation in PRDM8 in dyskeratosis congenita and aplastic anemia. a DNA methylation was measured by MassARRAY at the CpG site cg27242132 in blood samples of 62 new aplastic anemia (AA) and 12 new dyskeratosis congenita (DKC) patients, as compared to 10 previously described healthy controls [18]. t test: ** P < 0.01. b, c DNA methylation in cg27242132 does not correlate to epigenetic age (b) or telomere age (c). d, e Barcoded bisulfite amplicon sequencing (BBA-seq) was used to determined DNA methylation around the two relevant CpGs (cg27242132 and cg19409579) in independent samples: 12 controls, 8 AA, and 5 DKC validated higher methylation in DKC and AA compared to controls across the amplicons with 13 (assay 1) and 17 (assay 2) neighboring CpGs. fk The frequencies of DNA methylation patterns within individual BBA-seq reads are exemplarily depicted for both PRDM8 amplicons in a healthy donor (f, g), a DKC patient (h, i) and a AA patient (j, k)

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