Genome-wide compendium and functional assessment of in vivo heart enhancers

Diane E. Dickel (), Iros Barozzi, Yiwen Zhu, Yoko Fukuda-Yuzawa, Marco Osterwalder, Brandon J. Mannion, Dalit May, Cailyn H. Spurrell, Ingrid Plajzer-Frick, Catherine S. Pickle, Elizabeth Lee, Tyler H. Garvin, Momoe Kato, Jennifer A. Akiyama, Veena Afzal, Ah Young Lee, David U. Gorkin, Bing Ren, Edward M. Rubin, Axel Visel () and Len A. Pennacchio ()
Additional contact information
Diane E. Dickel: Lawrence Berkeley National Laboratory
Iros Barozzi: Lawrence Berkeley National Laboratory
Yiwen Zhu: Lawrence Berkeley National Laboratory
Yoko Fukuda-Yuzawa: Lawrence Berkeley National Laboratory
Marco Osterwalder: Lawrence Berkeley National Laboratory
Brandon J. Mannion: Lawrence Berkeley National Laboratory
Dalit May: Lawrence Berkeley National Laboratory
Cailyn H. Spurrell: Lawrence Berkeley National Laboratory
Ingrid Plajzer-Frick: Lawrence Berkeley National Laboratory
Catherine S. Pickle: Lawrence Berkeley National Laboratory
Elizabeth Lee: Lawrence Berkeley National Laboratory
Tyler H. Garvin: Lawrence Berkeley National Laboratory
Momoe Kato: Lawrence Berkeley National Laboratory
Jennifer A. Akiyama: Lawrence Berkeley National Laboratory
Veena Afzal: Lawrence Berkeley National Laboratory
Ah Young Lee: Ludwig Institute for Cancer Research
David U. Gorkin: Ludwig Institute for Cancer Research
Bing Ren: Ludwig Institute for Cancer Research
Edward M. Rubin: Lawrence Berkeley National Laboratory
Axel Visel: Lawrence Berkeley National Laboratory
Len A. Pennacchio: Lawrence Berkeley National Laboratory

Nature Communications, 2016, vol. 7, issue 1, 1-13

Abstract: Abstract Whole-genome sequencing is identifying growing numbers of non-coding variants in human disease studies, but the lack of accurate functional annotations prevents their interpretation. We describe the genome-wide landscape of distant-acting enhancers active in the developing and adult human heart, an organ whose impairment is a predominant cause of mortality and morbidity. Using integrative analysis of >35 epigenomic data sets from mouse and human pre- and postnatal hearts we created a comprehensive reference of >80,000 putative human heart enhancers. To illustrate the importance of enhancers in the regulation of genes involved in heart disease, we deleted the mouse orthologs of two human enhancers near cardiac myosin genes. In both cases, we observe in vivo expression changes and cardiac phenotypes consistent with human heart disease. Our study provides a comprehensive catalogue of human heart enhancers for use in clinical whole-genome sequencing studies and highlights the importance of enhancers for cardiac function.

Date: 2016
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DOI: 10.1038/ncomms12923

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