Physiological and Genetic Adaptations to Diving in Sea Nomads

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

Publication types

  • Research Support, Non-U.S. Gov't
  • Video-Audio Media

MeSH terms

  • Adaptation, Physiological*
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Asian Continental Ancestry Group
  • Breath Holding*
  • Diving*
  • Erythrocytes / cytology
  • Ethnic Groups
  • European Continental Ancestry Group
  • Female
  • Genetic Variation
  • Genomics
  • Humans
  • Hypoxia
  • Indonesia / ethnology
  • Lung
  • Male
  • Middle Aged
  • Organ Size*
  • Oxygen / physiology
  • Phenotype
  • Phosphoric Diester Hydrolases / genetics*
  • Polymorphism, Single Nucleotide
  • Selection, Genetic
  • Spleen / physiology
  • Young Adult

Substances

  • PDE10A protein, human
  • Phosphoric Diester Hydrolases
  • Oxygen