Human Body Epigenome Maps Reveal Noncanonical DNA Methylation Variation


Understanding the diversity of human tissues is fundamental to disease and requires linking genetic information, which is identical in most of an individual's cells, with epigenetic mechanisms that could have tissue-specific roles. Surveys of DNA methylation in human tissues have established a complex landscape including both tissue-specific and invariant methylation patterns. Here we report high coverage methylomes that catalogue cytosine methylation in all contexts for the major human organ systems, integrated with matched transcriptomes and genomic sequence. By combining these diverse data types with each individuals' phased genome, we identified widespread tissue-specific differential CG methylation (mCG), partially methylated domains, allele-specific methylation and transcription, and the unexpected presence of non-CG methylation (mCH) in almost all human tissues. mCH correlated with tissue-specific functions, and using this mark, we made novel predictions of genes that escape X-chromosome inactivation in specific tissues. Overall, DNA methylation in several genomic contexts varies substantially among human tissues.

DOI: 10.1038/nature14465

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@inproceedings{Schultz2015HumanBE, title={Human Body Epigenome Maps Reveal Noncanonical DNA Methylation Variation}, author={Matthew D. Schultz and Yupeng He and John W. Whitaker and Manoj Hariharan and Eran A Mukamel and Danny Leung and Nisha Rajagopal and Joseph R Nery and Mark A. Urich and Huaming Chen and Shin - Yu Lin and Yiing Lin and Inkyung Jung and Anthony D. Schmitt and Siddarth Selvaraj and Bing Ren and Terrence J. Sejnowski and Wei Wang and Joseph R. Ecker}, booktitle={Nature}, year={2015} }