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Senp1 drives hypoxia-induced polycythemia via GATA1 and Bcl-xL in subjects with Monge's disease

Azad, Priti, Zhao, Huiwen W., Cabrales, Pedro J., Ronen, Roy, Zhou, Dan, Poulsen, Orit, Appenzeller, Otto, Hsiao, Yu Hsin, Bafna, Vineet, Haddad, Gabriel G.·2016·Journal of Experimental Medicine
DOI 10.1084/jem.20151920PMC PMC5110013
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Abstract

In this study, because excessive polycythemia is a predominant trait in some high-altitude dwellers (chronic mountain sickness [CMS] or Monge’s disease) but not others living at the same altitude in the Andes, we took advantage of this human experiment of nature and used a combination of induced pluripotent stem cell technology, genomics, and molecular biology in this unique population to understand the molecular basis for hypoxia-induced excessive polycythemia. As compared with sea-level controls and non-CMS subjects who responded to hypoxia by increasing their RBCs modestly or not at all, respectively, CMS cells increased theirs remarkably (up to 60-fold). Although there was a switch from fetal to adult HgbA0 in all populations and a concomitant shift in oxygen binding, we found that CMS cells matured faster and had a higher efficiency and proliferative potential than non-CMS cells. We also established that SENP1 plays a critical role in the differential erythropoietic response of CMS and non-CMS subjects: we can convert the CMS phenotype into that of non-CMS and vice versa by altering SENP1 levels. We also demonstrated that GATA1 is an essential downstream target of SENP1 and that the differential expression and response of GATA1 and Bcl-xL are a key mechanism underlying CMS pathology.

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Metadata

Authors
Azad, P., Zhao, H. W., Cabrales, P. J., Ronen, R., Zhou, D., Poulsen, O., Appenzeller, O., Hsiao, Y. H., Bafna, V., & Haddad, G. G.
Affiliations
  • Division of Respiratory Medicine, Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093 1
  • Department of Bioengineering, University of California, San Diego, La Jolla, CA 92093 2
  • Bioinformatics and Systems Biology Graduate Program, University of California, San Diego, La Jolla, CA 92093 3
  • Department of Neurology, New Mexico Health Enhancement and Marathon Clinics Research Foundation, Albuquerque, NM 87122 6
  • Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA 92093 4
ORCID
Venue
Journal of Experimental Medicine
Publisher
Rockefeller University Press
Published
2016-11-07
Volume
213
Issue
12
Pages
2729-2744
ISSN
  • 0022-1007
  • 1540-9538
DOI
10.1084/jem.20151920
PMC
PMC5110013
Cited by
38
References
1
Language
en
Funders
  • National Institutes of Health (1P01HL098053, 5P01HD32573)
  • National Science Foundation (NSF-CCF-1115206, NSF-III-1318386)
  • NIH (5RO1-HG004962, U54 HL108460, R56HL123015, R01-HL52684)

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