Study
Sequencing of 50 human exomes reveals adaptation to high altitude
Yi, Xin; Liang, Yu; Huerta-Sánchez, Emilia; Jin, Xin; Cuo, Zha Xi Ping; Pool, John E.; Nielsen, Rasmus; Wang, Jian
Science, 2010
Sequenced the protein-coding regions of fifty Tibetan genomes and scanned for variants at unusually different frequencies from lowland Han Chinese, testing for signatures of recent selection.
- Studied in
- Homo sapiens
- Sample size
- 50 Tibetan exomes, compared against lowland populations
A variant near EPAS1, a gene regulating the response to low oxygen, showed one of the largest frequency differences ever recorded between closely related human populations, and is associated with the lower haemoglobin characteristic of Tibetans.
What it means
The authors' reading, and ours. Where they differ, that difference is the point.
How the authors put it
The variant has been under strong recent selection in Tibetans, and it acts by moderating rather than amplifying the usual response to hypoxia.
How NatureHQ reads it
Adaptation in the strict sense, caught in the act, in humans. The direction is the instructive part: selection favoured a variant that *damps* the standard low-oxygen response, because the standard response — making more red cells — thickens the blood and is harmful over a lifetime.
- A frequency difference and an association; the causal path from variant to physiology is inferred rather than demonstrated.
- Coding regions only, so regulatory variants elsewhere were not surveyed.
What this study is used for on NatureHQ
One study can inform several subjects. Here is everywhere this one is cited.
High-altitude adaptation
Tibetan and Andean highlanders solved the same problem differently. Andeans carry much more haemoglobin; Tibetans do not, and instead breathe faster with far higher nitric oxide and greater blood flow.
High-altitude adaptation
The Tibetan altitude variant came from Denisovans, inherited from another human lineage and then selected for. It damps the usual low-oxygen response rather than amplifying it.
Published by: American Association for the Advancement of SciencePublished in Science or Science Advances (AAAS).
Search for this paper by title and author
The reference details here were taken down by an editor and have not been confirmed against an independent catalogue of published work. The title, authors, journal and year are enough to find the paper; we would rather tell you that than print a reference number nobody has checked.
NatureHQ summarises research in its own words and does not reproduce published text. Reviewed 2026-09-03.