| Literature DB >> 29677510 |
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.
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.Entities:
Keywords: adaptation; bradykinin; diving reflex; diving response; hypoxia; natural selection; sea nomads; spleen size; thyroid hormone
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Year: 2018 PMID： 29677510 DOI： 10.1016/j.cell.2018.03.054
Source DB: PubMed Journal: Cell ISSN： 0092-8674 Impact factor: 41.582