Identifier PRJCA000269
Title Mechanism of multi-gene interactions underlying the genetic adaptation to high altitude hypoxia in Tibetan populations
Umbrella project

eGPS: evolutionary Genotype-Phenotype Systems biology

Plateau Adaptability

Study on genetic basis of environmental adaptation in Tibetan Plateau

Project data type Transcriptome or Gene expression
Organism Homo sapiens
Description The Tibetan Plateau is the highest mountainous area in the world, an ideal "laboratory" for studying the molecular mechanism of how living organisms adapt to the environmental extreme of high altitude hypoxia. Tibetans, as the indigenous population living in the Tibetan Plateau region have been well-adapted to the high-altitude environment due to longtime natural selection, making them an ideal population for studying adaptation to high-altitude hypoxia in humans. This project aims to dissect the sequence variations and their functions of the 18 candidate genes, selected based on our previous genome-wide analyses in Tibetans, and they are likely involved in hypoxic adaptation. We intend to reveal the strength and timing of natural selection acting on these candidate genes in Tibetans. Combining the approaches of large-sample-size genetic association analysis, gene expression profiling of placenta tissue (an important oxygen-exchange organ), induced hypoxia experiment using endothelial cells and transgenic analysis, we sought to understand "how humans and other organisms have improved their physiological functions through interactions among multiple genes in the genome and developed the ability for high-altitude hypoxia adaptation". The results of this project will shed light on the molecular mechanism of adaptation to high-altitude hypoxia in humans, and will provide valuable genetic data for drug design in order to prevent and cure the high-altitude related diseases, which is crucial not only for basic research , but also for future medical applications.
Sample scope Multispecies
Release date 2016-11-04
PubMed ID Title Journal Doi Year
28096303 Down-Regulation of EPAS1 Transcription and Genetic Adaptation of Tibetans to High-Altitude Hypoxia. Molecular biology and evolution 10.1093/molbev/msw280 2017
Submitter Yaoxi  He  (
Affiliation Kunming Institute of Zoology, CAS
Submission date 2016-09-01

Project Data