.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

Melissa A Ilardo¹, Ida Moltke², Thorfinn S Korneliussen³, Jade Cheng⁴, Aaron J Stern⁵, Fernando Racimo¹, Peter de Barros Damgaard¹, Martin Sikora¹, Andaine Seguin-Orlando⁶, Simon Rasmussen⁷, Inge C L van den Munckhof⁸, Rob Ter Horst⁸, Leo A B Joosten⁸, Mihai G Netea⁹, Suhartini Salingkat¹⁰, Rasmus Nielsen¹¹, Eske Willerslev¹²

Affiliations

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.

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

Free article

Physiological and Genetic Adaptations to Diving in Sea Nomads

Melissa A Ilardo et al. Cell.2018.

Free article

.2018 Apr 19;173(3):569-580.e15.

doi: 10.1016/j.cell.2018.03.054.

Authors

Affiliations

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.

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

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.

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Comment in

A breath-holding adaptation.
Trenkmann M.Trenkmann M.Nat Rev Genet. 2018 Jul;19(7):402-403. doi: 10.1038/s41576-018-0014-1.Nat Rev Genet. 2018.PMID:29695757No abstract available.

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