Human body epigenome maps reveal noncanonical DNA methylation variation.

TitleHuman body epigenome maps reveal noncanonical DNA methylation variation.
Publication TypeJournal Article
Year of Publication2015
AuthorsSchultz MD, He Y, Whitaker JW, Hariharan M, Mukamel EA, Leung D, Rajagopal N, Nery JR, Urich MA, Chen H, Lin S, Lin Y, Jung I, Schmitt AD, Selvaraj S, Ren B, Sejnowski TJ, Wang W, Ecker JR
JournalNature
Volume523
Issue7559
Pagination212-6
Date Published2015 Jul 9
ISSN1476-4687
Abstract

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.

DOI10.1038/nature14465
PubMed URLhttp://www.ncbi.nlm.nih.gov/pubmed/26030523?dopt=Abstract
Alternate JournalNature
PubMed ID26030523
PubMed Central IDPMC4499021
Grant ListF32 HL110473 / HL / NHLBI NIH HHS / United States
F32HL110473 / HL / NHLBI NIH HHS / United States
K99 HL119617 / HL / NHLBI NIH HHS / United States
K99 NS080911 / NS / NINDS NIH HHS / United States
K99HL119617 / HL / NHLBI NIH HHS / United States
R00 NS080911 / NS / NINDS NIH HHS / United States
R00NS080911 / NS / NINDS NIH HHS / United States
R01 ES024984 / ES / NIEHS NIH HHS / United States
U01 ES017166 / ES / NIEHS NIH HHS / United States
U01 ES017166 / ES / NIEHS NIH HHS / United States
/ / Howard Hughes Medical Institute / United States
Track(s): 
Bioinformatics and Systems Biology