A human tissue map of 5-hydroxymethylcytosines exhibits tissue specificity through gene and enhancer modulation

Xiao Long Cui, Ji Nie, Jeremy Ku, Urszula Dougherty, Diana C. West-Szymanski, Francois Collin, Christopher K. Ellison, Laura Sieh, Yuhong Ning, Zifeng Deng, Carolyn W.T. Zhao, Anna Bergamaschi, Joel Pekow, Jiangbo Wei, Alana V. Beadell, Zhou Zhang, Geeta Sharma, Raman Talwar, Patrick Arensdorf, Jason KarpusAjay Goel, Marc Bissonnette, Wei Zhang, Samuel Levy, Chuan He*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

60 Scopus citations


DNA 5-hydroxymethylcytosine (5hmC) modification is known to be associated with gene transcription and frequently used as a mark to investigate dynamic DNA methylation conversion during mammalian development and in human diseases. However, the lack of genome-wide 5hmC profiles in different human tissue types impedes drawing generalized conclusions about how 5hmC is implicated in transcription activity and tissue specificity. To meet this need, we describe the development of a 5hmC tissue map by characterizing the genomic distributions of 5hmC in 19 human tissues derived from ten organ systems. Subsequent sequencing results enabled the identification of genome-wide 5hmC distributions that uniquely separates samples by tissue type. Further comparison of the 5hmC profiles with transcriptomes and histone modifications revealed that 5hmC is preferentially enriched on tissue-specific gene bodies and enhancers. Taken together, the results provide an extensive 5hmC map across diverse human tissue types that suggests a potential role of 5hmC in tissue-specific development; as well as a resource to facilitate future studies of DNA demethylation in pathogenesis and the development of 5hmC as biomarkers.

Original languageEnglish (US)
Article number6161
JournalNature communications
Issue number1
StatePublished - Dec 2020

ASJC Scopus subject areas

  • Physics and Astronomy(all)
  • Chemistry(all)
  • Biochemistry, Genetics and Molecular Biology(all)


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