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. 2018 Jan 4;9:67. doi: 10.1038/s41467-017-02306-5

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© The Author(s) 2017

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 4 — The MMACHC epimutation is associated with a H3K36me3 chromatin mark in the promoter and a mutation in the PRDX1 adjacent gene. a Results of ChIP-Seq analyses at the genomic region encompassing the promoters of MMACHC/CCDC163P and PRDX1. Genomic panels show normalized coverage for histone H3 trimethylated lysine 36 (H3K36me3) mark in patients (tracks 1–4 from top) and controls (tracks 5–7). H3K4me3 track along with the peak calls, for one of the controls, has also been shown. The rectangles indicate the promoter regions. The same scale has been set in all panels. See Methods for more details on samples and analysis. b Identification of PRDX1 splice acceptor variants in cases with MMACHC epimutation by whole-genome sequencing. Top: the vertical black line is positioned on the locus of the two PRDX1 variants within the splice acceptor site (AG sequence) on intron 5. Bottom: zoomed view centered on the splice acceptor site of PRDX1 intron 5. Genomic positions are reported according to the reference sequence GRCh37. The red semicircle denotes the presence of MMACHC genetic mutation. The green semicircle denotes the presence of MMACHC epimutation. The white semicircle denotes the absence of both