IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v7y2016i1d10.1038_ncomms12923.html
   My bibliography  Save this article

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

Author

Listed:
  • 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
    Present address: Department of Family Medicine, Clalit Health Services, The Hebrew University-Hadassah Medical School, 91120 Jerusalem, Israel)

  • 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
    University of California, San Diego School of Medicine)

  • Edward M. Rubin

    (Lawrence Berkeley National Laboratory
    U.S. Department of Energy Joint Genome Institute)

  • Axel Visel

    (Lawrence Berkeley National Laboratory
    U.S. Department of Energy Joint Genome Institute
    School of Natural Sciences, University of California, Merced)

  • Len A. Pennacchio

    (Lawrence Berkeley National Laboratory
    U.S. Department of Energy Joint Genome Institute)

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.

Suggested Citation

  • 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 &, 2016. "Genome-wide compendium and functional assessment of in vivo heart enhancers," Nature Communications, Nature, vol. 7(1), pages 1-13, December.
    • Handle: RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms12923
    DOI: 10.1038/ncomms12923
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/ncomms12923
    File Function: Abstract
    Download Restriction: no
    File URL: https://libkey.io/10.1038/ncomms12923?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms12923. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.