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Transcriptional regulation

Regulatory element usage in healthy and failing human heart tissue

Nature Cardiovascular Research volume 2, pages 10–12 (2023)Cite this article

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Regulatory elements including promoters and enhancers control tissue- and context-dependent gene expression. A new study presents an atlas of transcribed regulatory elements in human heart compartments, and their changes in transcription in the failing heart.

The human heart is a complex organ composed of many millions of interacting cells that must be maintained in a state of optimal performance throughout life. Developing from just a few progenitor cells, the embryonic heart goes through a spectacular process of proliferation, differentiation and morphogenesis to a fully functional organ long before birth, supporting development, viability and growth of the embryo. To meet this end, a strict temporal and spatial pattern of gene regulation is essential for correct heart function and homeostasis. Disruption of gene regulation is a clearly recognized contributor to congenital malformations and cardiovascular diseases. Moreover, common genetic variants that have been previously associated with cardiovascular disease risk are enriched in non-coding gene-regulatory elements, thus influencing gene regulation.

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Fig. 1: State- and genetic variant-dependent transcription of enhancers, a class of regulatory elements in the genome.

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Authors and Affiliations

  1. Department of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands

    Vincent M. Christoffels & Phil Barnett

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  1. Vincent M. Christoffels
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  2. Phil Barnett
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Correspondence to Vincent M. Christoffels or Phil Barnett.

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The authors declare no competing financial interests.

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Christoffels, V.M., Barnett, P. Regulatory element usage in healthy and failing human heart tissue. Nat Cardiovasc Res 2, 10–12 (2023). https://doi.org/10.1038/s44161-022-00192-9

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