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Fig. 4 | Clinical Epigenetics

Fig. 4

From: Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12

Fig. 4

Results of ChIP-Seq analyses at the genomic region encompassing the CCDC163–MMACHC bidirectional promoter region (CpG:33) and in the TESK2 promoter region (CpG:51). Genomic panels show normalized coverage for histone H3 trimethylated lysine 36 (H3K36me3) and H3K4me3 marks in patients with an epi-cblC phenotype and controls. The dashed rectangles indicate the CCDC163–MMACHC bidirectional promoter region (CpG:33) and the TESK2 promoter region (CpG:51). The same scale has been set in all panels. ChIP-Seq showed a significant accumulation of the H3K36me3 and a mirrored profile of H3K4me3 in the CCDC163–MMACHC bidirectional promoter region (CpG:33) and in the TESK2 promoter region (CpG:51) among patients with an epi-cblC phenotype in comparison with controls. In contrast, the histone H3K36me3 and H3K4me3 marks are similar in the PRDX1 promoter region. The RNAseq showed a high expression of PRDX1 exons and low or no expression of MMACHC exons in case WG-3838 epi-cblC and cblC fibroblasts

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Clinical Epigenetics

ISSN: 1868-7083

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