Epigenomics: Roadmap for regulation

Nature

518,

314–316

(19 February 2015)

doi:10.1038/518314a

Published online: 18 February 2015

A package of papers investigates the functional regulatory elements in genomes that have been obtained from human tissue samples and cell lines. The implications of the project are presented here from three viewpoints. See Articles p.317, p.331, p.337 & p.344 and Letters p.350, p.355, p.360 & p.365

Subject terms:

The topic in brief

Epigenomics is the study of the key functional elements that regulate gene expression in a cell.
Epigenomes provide information about the patterns in which structures such as methyl groups tag DNA and histones (the proteins around which DNA is packaged to form chromatin), and about interactions between distant sections of chromatin.
They also contain information about regulatory elements in DNA itself: both those that lie in the promoter region immediately upstream of where a gene's transcription begins, and those in distant enhancer sequences.
The ENCODE Project¹ aimed to catalogue the regulatory elements in human cells, studying the epigenomic signatures of cells grown in culture. The Roadmap Epigenomics Project^{2, 3,4, 5, 6, 7, 8, 9} builds on this by analysing samples taken directly from human tissues and cells — embryonic and adult, diseased and healthy (Fig. 1).
The researchers have linked these epigenomic data to the corresponding genetic information, producing reference epigenomes for 127 tissue and cell types.
The result is a representation of how epigenomic elements regulate gene expression in the human body.