Physiological and Genetic Adaptations to Diving in Sea Nomads

Melissa A Ilardo, Ida Moltke, Thorfinn S Korneliussen, Jade Cheng, Aaron J Stern, Fernando Racimo, Peter de Barros Damgaard, Martin Sikora, Andaine Seguin-Orlando, Simon Rasmussen, Inge C L van den Munckhof, Rob Ter Horst, Leo A B Joosten, Mihai G Netea, Suhartini Salingkat, Rasmus Nielsen, Eske Willerslev*

*Corresponding author for this work

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    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.
    Original languageEnglish
    Article numbere15
    Issue number3
    Pages (from-to)569-580
    Publication statusPublished - 2018

    Cite this

    Ilardo, M. A., Moltke, I., Korneliussen, T. S., Cheng, J., Stern, A. J., Racimo, F., de Barros Damgaard, P., Sikora, M., Seguin-Orlando, A., Rasmussen, S., van den Munckhof, I. C. L., Ter Horst, R., Joosten, L. A. B., Netea, M. G., Salingkat, S., Nielsen, R., & Willerslev, E. (2018). Physiological and Genetic Adaptations to Diving in Sea Nomads. CELL, 173(3), 569-580. [e15].