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Cell. 2018 Apr 19;173(3):569-580.e15. doi: 10.1016/j.cell.2018.03.054.

Physiological and Genetic Adaptations to Diving in Sea Nomads.

Author information

1
Centre for GeoGenetics, University of Copenhagen, Copenhagen 1350, Denmark.
2
Department of Biology, University of Copenhagen, Copenhagen 2200, Denmark.
3
Centre for GeoGenetics, University of Copenhagen, Copenhagen 1350, Denmark; Department of Zoology, University of Cambridge, Cambridge, CB2 3EJ, UK.
4
Department of Integrative Biology, University of California at Berkeley, Berkeley, CA 94720, USA.
5
Department of Integrative Biology, University of California at Berkeley, Berkeley, CA 94720, USA; Department of Computational Biology, University of California at Berkeley, Berkeley, CA 94720, USA.
6
Centre for GeoGenetics, University of Copenhagen, Copenhagen 1350, Denmark; Danish National High-throughput DNA Sequencing Centre, University of Copenhagen 1353, Denmark.
7
Bioinformatics, Technical University of Denmark, Lyngby 2800, Denmark.
8
Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen 6525, the Netherlands.
9
Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen 6525, the Netherlands; Department for Genomics and Immunoregulation, Life and Medical Sciences Institute (LIMES), University of Bonn, Bonn 53115, Germany.
10
Tompotika Luwuk Banggai, Tompotika University, Luwuk 94711, Indonesia.
11
Centre for GeoGenetics, University of Copenhagen, Copenhagen 1350, Denmark; Department of Integrative Biology, University of California at Berkeley, Berkeley, CA 94720, USA. Electronic address: rasmus_nielsen@berkeley.edu.
12
Centre for GeoGenetics, University of Copenhagen, Copenhagen 1350, Denmark; Department of Zoology, University of Cambridge, Cambridge, CB2 3EJ, UK; Wellcome Trust, Sanger Institute, Hinxton CB10 1SA, UK. Electronic address: ewillerslev@snm.ku.dk.

Abstract

Understanding the physiology and genetics of human hypoxia tolerance has important medical implications, but this phenomenon has thus far only been investigated in high-altitude human populations. Another system, yet to be explored, is humans who engage in breath-hold diving. The indigenous Bajau people ("Sea Nomads") of Southeast Asia live a subsistence lifestyle based on breath-hold diving and are renowned for their extraordinary breath-holding abilities. However, it is unknown whether this has a genetic basis. Using a comparative genomic study, we show that natural selection on genetic variants in the PDE10A gene have increased spleen size in the Bajau, providing them with a larger reservoir of oxygenated red blood cells. We also find evidence of strong selection specific to the Bajau on BDKRB2, a gene affecting the human diving reflex. Thus, the Bajau, and possibly other diving populations, provide a new opportunity to study human adaptation to hypoxia tolerance. VIDEO ABSTRACT.

KEYWORDS:

adaptation; bradykinin; diving reflex; diving response; hypoxia; natural selection; sea nomads; spleen size; thyroid hormone

PMID:
29677510
DOI:
10.1016/j.cell.2018.03.054

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