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Characterization of Structural Variation in Tibetans Reveals New Evidence of High-altitude Adaptation and Introgression

View ORCID ProfileCheng Quan, Yuanfeng Li, Yahui Wang, Jie Ping, Yiming Lu, Gangqiao Zhou
doi: https://doi.org/10.1101/2020.12.01.401174
Cheng Quan
1Department of Genetics & Integrative Omics, State Key Laboratory of Proteomics, National Center for Protein Sciences, Beijing Institute of Radiation Medicine, Beijing, 100850, P. R. China
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Yuanfeng Li
1Department of Genetics & Integrative Omics, State Key Laboratory of Proteomics, National Center for Protein Sciences, Beijing Institute of Radiation Medicine, Beijing, 100850, P. R. China
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Yahui Wang
1Department of Genetics & Integrative Omics, State Key Laboratory of Proteomics, National Center for Protein Sciences, Beijing Institute of Radiation Medicine, Beijing, 100850, P. R. China
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Jie Ping
1Department of Genetics & Integrative Omics, State Key Laboratory of Proteomics, National Center for Protein Sciences, Beijing Institute of Radiation Medicine, Beijing, 100850, P. R. China
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Yiming Lu
1Department of Genetics & Integrative Omics, State Key Laboratory of Proteomics, National Center for Protein Sciences, Beijing Institute of Radiation Medicine, Beijing, 100850, P. R. China
4Hebei University, Baoding, Hebei Province, 071002, P. R. China
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  • For correspondence: zhougq114@126.com ylu.phd@gmail.com
Gangqiao Zhou
1Department of Genetics & Integrative Omics, State Key Laboratory of Proteomics, National Center for Protein Sciences, Beijing Institute of Radiation Medicine, Beijing, 100850, P. R. China
2Collaborative Innovation Center for Personalized Cancer Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu Province, 211166, P. R. China
3Medical College of Guizhou University, Guiyang, Guizhou Province, 550025, P. R. China
4Hebei University, Baoding, Hebei Province, 071002, P. R. China
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  • For correspondence: zhougq114@126.com ylu.phd@gmail.com
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Abstract

Structural variation (SV) acts as an essential mutational force shaping the evolution and function of the human genome. To investigate the role of SVs in high-altitude adaptation (HAA), we here generated a comprehensive catalog of SVs in a Chinese Tibetan (n = 15) and Han (n = 10) population using the nanopore sequencing technology. Among a total of 38,216 unique SVs in the catalog, 27% were sequence-resolved for the first time. We systemically assessed the distribution of these SVs across repeat sequences and functional genomic regions. Through genotyping in additional 189 genomes, we identified 90 Tibetan-Han stratified SVs and 124 candidate adaptive genes. Besides, we discovered 15 adaptive introgressed SV candidates and provided evidence for a deletion of 335 base pairs at 1p36.32. Overall, our results highlight the important role of SVs in the evolutionary processes of Tibetans’ adaptation to the Qinghai-Tibet Plateau and provide a valuable resource for future HAA studies.

Competing Interest Statement

The authors have declared no competing interest.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted December 02, 2020.
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Characterization of Structural Variation in Tibetans Reveals New Evidence of High-altitude Adaptation and Introgression
Cheng Quan, Yuanfeng Li, Yahui Wang, Jie Ping, Yiming Lu, Gangqiao Zhou
bioRxiv 2020.12.01.401174; doi: https://doi.org/10.1101/2020.12.01.401174
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Characterization of Structural Variation in Tibetans Reveals New Evidence of High-altitude Adaptation and Introgression
Cheng Quan, Yuanfeng Li, Yahui Wang, Jie Ping, Yiming Lu, Gangqiao Zhou
bioRxiv 2020.12.01.401174; doi: https://doi.org/10.1101/2020.12.01.401174

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