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 AbstracteyJraWQiOiI4ZjUxYWNhY2IzYjhiNjNlNzFlYmIzYWFmYTU5NmZmYyIsImFsZyI6IlJTMjU2In0.eyJzdWIiOiIyMzViYjE0NjQxOTY0N2U4NDk2MjNlYjMzODIzYjdlMSIsImtpZCI6IjhmNTFhY2FjYjNiOGI2M2U3MWViYjNhYWZhNTk2ZmZjIiwiZXhwIjoxNjc3OTI5NTI2fQ.COruHCSlkRjhWaL7fUJo-ByuBlq3nvqiyzsmKFelC3ckyDD_RCWpj5rHIf7jKK1wCxxaoSqoMNt6W-H7ugohjuhkpn6r_rEHtggnua8c_aOm2_lDr1pcFLcAf6x78Sy4SlL-u1nQSjV1wqHI32R6TL5mJ-XzaAQ6C5Z7yKpGsHvUem-qfNUmZ69mBMMNdD6fFEW-3AII6m7NxyGaKgmBnFKCQtsrNCTVoXPipDyJ_DP9i6PN0eycj5FBVNjZ8Wi3eddCIXgazC8K2BEtndkk0z1Jhvk7o4e5kkwhaV0FzmPj3myrCWFa31i9VU3brnWdsiYJrExwaeGExP3q2wXxwg(mp4, (9.88 MB) Download video
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