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Science China Life Sciences

, Volume 61, Issue 1, pp 68–78 | Cite as

Evolutionary significance of selected EDAR variants in Tibetan high-altitude adaptations

  • Jianming Shao
  • Muhammad Sohail Raza
  • Basang Zhuoma
  • Changqing ZengEmail author
Research Paper

Abstract

Humans have been exposed to many environmental challenges since their evolutionary origins in Africa and subsequent migrations to the rest of the world. A severe environmental challenge to human migrants was hypoxia caused by low barometric oxygen pressure at high altitudes. Several genome-wide scans have elucidated the genetic basis of human high-altitude adaptations. However, the dearth of functional variant information has led to the successful association of only a few candidate genes. In the present study, we employed a candidate gene approach and re-sequenced the EDAR locus in 45 Tibetan individuals to identify mutations involved in hypoxia adaptation. We identified 10 and five quantitative trait-associated mutations for oxygen saturation (SaO2) and blood platelet count, respectively, at the EDAR locus. Among these, rs10865026 and rs3749110 (associated with SaO2 and platelet count, respectively) were identified as functional candidate targets. These data demonstrate that EDAR has undergone natural selection in recent human history and indicate an important role of EDAR variants in Tibetan high-altitude adaptations.

Keywords

Tibetan high altitude adaptation EDAR 

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Notes

Acknowledgements

We thank all of the Tibetan volunteers who donated samples. This work was supported by the National Natural Science Foundation of China (91131905, 30890030), Strategic Priority Research Program of the Chinese Academy of Sciences (XDB13020500), and Weng Hongwu Original Scientific Research Foundation, Peking University. M.S. Raza was partially sponsored by UCAS fellowship program and supported by the CAS-TWAS president’s fellowship program for international doctoral candidates.

Supplementary material

11427_2016_9045_MOESM1_ESM.docx (163 kb)
Figure S1 Chromosome state of EDAR region harboring rs10865026. Red line marks the location of candidate variant. Table S1 Sample information in resequencing Table S2 EDAR SNPs with Tibetan-Han Fst>0.2 Table S3Fst values of QTA-SNPs between low and high altitude Peruvians Table S4 Genotype frequency comparison of rs10865026

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Copyright information

© Science China Press and Springer-Verlag GmbH Germany, part of Springer Nature 2017

Authors and Affiliations

  • Jianming Shao
    • 1
    • 2
  • Muhammad Sohail Raza
    • 1
    • 2
  • Basang Zhuoma
    • 5
  • Changqing Zeng
    • 1
    • 2
    • 3
    • 4
    Email author
  1. 1.CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of GenomicsChinese Academy of SciencesBeijingChina
  2. 2.University of Chinese Academy of SciencesBeijingChina
  3. 3.The Innovation Center of Excellence on Science and Education of Life SciencesChinese Academy of SciencesBeijingChina
  4. 4.Collaborative Innovation Center of Genetics and DevelopmentShanghaiChina
  5. 5.Medical College of Tibet UniversityLhasaChina

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