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Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension

Author

Listed:
  • John H. Newman

    (Pulmonary and Critical Care, Vanderbilt University School of Medicine)

  • Timothy N. Holt

    (College of Agricultural Science, Colorado State University)

  • Joy D. Cogan

    (Vanderbilt University School of Medicine)

  • Bethany Womack

    (Vanderbilt University School of Medicine)

  • John A. Phillips

    (Vanderbilt University School of Medicine)

  • Chun Li

    (Case Western Reserve University)

  • Zachary Kendall

    (Vanderbilt University School of Medicine)

  • Kurt R. Stenmark

    (Cardiovascular Pulmonary Research Laboratory, University of Colorado)

  • Milton G. Thomas

    (Colorado State University)

  • R. Dale Brown

    (Cardiovascular Pulmonary Research Laboratory, University of Colorado)

  • Suzette R. Riddle

    (Cardiovascular Pulmonary Research Laboratory, University of Colorado)

  • James D. West

    (Pulmonary and Critical Care, Vanderbilt University School of Medicine)

  • Rizwan Hamid

    (Vanderbilt University School of Medicine)

Abstract

High-altitude pulmonary hypertension (HAPH) has heritable features and is a major cause of death in cattle in the Rocky Mountains, USA. Although multiple genes are likely involved in the genesis of HAPH, to date no major gene variant has been identified. Using whole-exome sequencing, we report the high association of an EPAS1 (HIF2α) double variant in the oxygen degradation domain of EPAS1 in Angus cattle with HAPH, mean pulmonary artery pressure >50 mm Hg in two independent herds. Expression analysis shows upregulation of 26 of 27 HIF2α target genes in EPAS1 carriers with HAPH. Of interest, this variant appears to be prevalent in lowland cattle, in which 41% of a herd of 32 are carriers, but the variant may only have a phenotype when the animal is hypoxemic at altitude. The EPAS1 variant will be a tool to determine the cells and signalling pathways leading to HAPH.

Suggested Citation

  • John H. Newman & Timothy N. Holt & Joy D. Cogan & Bethany Womack & John A. Phillips & Chun Li & Zachary Kendall & Kurt R. Stenmark & Milton G. Thomas & R. Dale Brown & Suzette R. Riddle & James D. Wes, 2015. "Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension," Nature Communications, Nature, vol. 6(1), pages 1-5, November.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms7863
    DOI: 10.1038/ncomms7863
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