Archaic inheritance: supporting high-altitude life in Tibet

J Appl Physiol (1985). 2015 Nov 15;119(10):1129-34. doi: 10.1152/japplphysiol.00322.2015. Epub 2015 Aug 20.


The Tibetan Plateau, often called the roof of the world, sits at an average altitude exceeding 4,500 m. Because of its extreme altitude, the Plateau is one of the harshest human-inhabited environments in the world. This, however, did not impede human colonization, and the Tibetan people have made the Tibetan Plateau their home for many generations. Many studies have quantified their markedly different physiological response to altitude and proposed that Tibetans were genetically adapted. Recently, advances in sequencing technologies led to the discovery of a set of candidate genes which harbor mutations that are likely beneficial at high altitudes in Tibetans. Since then, other studies have further characterized this impressive adaptation. Here, in this minireview, we discuss the progress made since the discovery of the genes involved in Tibetans' adaptation to high altitude with a particular emphasis on describing the series of studies that led us to conclude that archaic human DNA likely contributed to this impressive adaptation.

Keywords: Denisovans; EPAS1; Tibetans; adaptation; introgression.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adaptation, Physiological / genetics*
  • Altitude*
  • Animals
  • Asian Continental Ancestry Group / genetics*
  • Demography / methods
  • Genetic Association Studies / methods
  • Humans
  • Neanderthals / genetics*
  • Tibet