Promoter interactome of human embryonic stem cell-derived cardiomyocytes connects GWAS regions to cardiac gene networks

Research output: Contribution to journalArticlepeer-review

  • External authors:
  • Biola M Javierre
  • Steven W. Wingett
  • Artur Akbarov
  • Chris Wallace
  • Paula Freire-Pritchett
  • Peter J. Rugg-Gunn
  • Mikhail Spivakov
  • Peter Fraser


Long-range chromosomal interactions bring distal regulatory elements and promoters together to regulate gene expression in biological processes. By performing promoter capture Hi-C (PCHi-C) on human embryonic stem cell-derived cardiomyocytes (hESC-CMs), we show that such promoter interactions are a key mechanism by which enhancers contact their target genes after hESC-CM differentiation from hESCs. We also show that the promoter interactome of hESC-CMs is associated with expression quantitative trait loci (eQTLs) in cardiac left ventricular tissue; captures the dynamic process of genome reorganisation after hESC-CM differentiation; overlaps genome-wide association study (GWAS) regions associated with heart rate; and identifies new candidate genes in such regions. These findings indicate that regulatory elements in hESC-CMs identified by our approach control gene expression involved in ventricular conduction and rhythm of the heart. The study of promoter interactions in other hESC-derived cell types may be of utility in functional investigation of GWAS-associated regions.

Bibliographical metadata

Original languageEnglish
JournalNature Communications
Early online date28 Jun 2018
Publication statusPublished - 28 Jun 2018

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