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.
journal_name
Celljournal_title
Cellauthors
Ilardo MA,Moltke I,Korneliussen TS,Cheng J,Stern AJ,Racimo F,de Barros Damgaard P,Sikora M,Seguin-Orlando A,Rasmussen S,van den Munckhof ICL,Ter Horst R,Joosten LAB,Netea MG,Salingkat S,Nielsen R,Willerslev Edoi
10.1016/j.cell.2018.03.054subject
Has Abstractpub_date
2018-04-19 00:00:00pages
569-580.e15issue
3eissn
0092-8674issn
1097-4172pii
S0092-8674(18)30386-6journal_volume
173pub_type
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