ArticleCell genomics2025
A highland-adaptation variant near MCUR1 reduces its transcription and attenuates erythrogenesis in Tibetans.
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Article in Cell genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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45 authors.
Jie PingState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Radiation Medicine, Beijing 100850, P.R. China.
Xinyi LiuState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Radiation Medicine, Beijing 100850, P.R. China.
Yiming LuState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Radiation Medicine, Beijing 100850, P.R. China.
Cheng QuanState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Radiation Medicine, Beijing 100850, P.R. China.
Pengcheng FanPharmacy Department, General Hospital of Lanzhou, Lanzhou City 730050, P.R. China; State Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Lifeomics, Beijing 102206, P.R. China.
Hao LuState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Radiation Medicine, Beijing 100850, P.R. China.
Qi LiState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Radiation Medicine, Beijing 100850, P.R. China.
Cuiling WangState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Radiation Medicine, Beijing 100850, P.R. China.
Zheng ZhangState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Radiation Medicine, Beijing 100850, P.R. China.
Mengyu LiuState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Radiation Medicine, Beijing 100850, P.R. China.
Shunqi ChenState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Radiation Medicine, Beijing 100850, P.R. China.
Lingle ChangMedical College of Guizhou University, Guiyang City 550025, P.R. China.
Yuqing JiangCollaborative Innovation Center for Personalized Cancer Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing City 211166, P.R. China.
Qilin HuangCollaborative Innovation Center for Personalized Cancer Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing City 211166, P.R. China.
Jie LiuResearch Center for High-Altitude Medicine, Qinghai University Medical School, Xining City 810001, P.R. China; Qinghai Provincial People's Hospital, Xining City 810001, P.R. China.
Tana WurenResearch Center for High-Altitude Medicine, Qinghai University Medical School, Xining City 810001, P.R. China.
Huifang LiuResearch Center for High-Altitude Medicine, Qinghai University Medical School, Xining City 810001, P.R. China.
Ying HaoCollege of Life Sciences, Beijing University of Chinese Medicine, Beijing 102488, P.R. China.
Longli KangKey Laboratory for Molecular Genetic Mechanisms and Intervention Research on High-Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang City 712082, P.R. China; Key Laboratory of High-Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang City 712082, P.R. China.
Guanjun LiuHenan Provincial People's Hospital, Zhengzhou City 450000, P.R. China; Affiliated Cancer Hospital of Guangxi Medical University, Nanning City 530021, P.R. China.
Hui LuState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Radiation Medicine, Beijing 100850, P.R. China.
Xiaojun WeiState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Radiation Medicine, Beijing 100850, P.R. China.
Yuting WangState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Radiation Medicine, Beijing 100850, P.R. China.
Yuanfeng LiState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Radiation Medicine, Beijing 100850, P.R. China.
Hao GuoNo. 945 Hospital of Joint Logistic Support Force of Chinese PLA, Ya'an City 625000, P.R. China.
Yongquan CuiNo. 945 Hospital of Joint Logistic Support Force of Chinese PLA, Ya'an City 625000, P.R. China.
Haoxiang ZhangNo. 954 Hospital of Joint Logistic Support Force of Chinese PLA, Shannan City 856000, P.R. China.
Yang ZhangMedical Center for Human Reproduction, Beijing Chao-Yang Hospital, Capital Medical University, Beijing 100020, P.R. China.
Yujia ZhaiCenter for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, P.R. China.
Yaoxi HeState Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming City 650223, P.R. China.
Wangshan ZhengState Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming City 650223, P.R. China.
Xuebin QiState Key Laboratory of Primate Biomedical Research, Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming 650000, China; Fukang Obstetrics, Gynecology and Children Branch Hospital, Tibetan Fukang Hospital, Lhasa 850000, China.
OuzhuluobuFukang Obstetrics, Gynecology and Children Branch Hospital, Tibetan Fukang Hospital, Lhasa 850000, China.
Huiping MaPharmacy Department, General Hospital of Lanzhou, Lanzhou City 730050, P.R. China.
Linpeng YangPharmacy Department, General Hospital of Lanzhou, Lanzhou City 730050, P.R. China.
Xin WangPharmacy Department, General Hospital of Lanzhou, Lanzhou City 730050, P.R. China.
Wanjun JinPharmacy Department, General Hospital of Lanzhou, Lanzhou City 730050, P.R. China.
Ying CuiAffiliated Cancer Hospital of Guangxi Medical University, Nanning City 530021, P.R. China.
Rili GeResearch Center for High-Altitude Medicine, Qinghai University Medical School, Xining City 810001, P.R. China.
Shizheng WuResearch Center for High-Altitude Medicine, Qinghai University Medical School, Xining City 810001, P.R. China; Qinghai Provincial People's Hospital, Xining City 810001, P.R. China.
Yuan WeiCenter for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, P.R. China.
Bing SuState Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming City 650223, P.R. China.
Fuchu HeState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Lifeomics, Beijing 102206, P.R. China.
Hongxing ZhangState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Lifeomics, Beijing 102206, P.R. China. Electronic address: zhanghx08@126.com.
Gangqiao ZhouState Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Radiation Medicine, Beijing 100850, P.R. China; Medical College of Guizhou University, Guiyang City 550025, P.R. China; Collaborative Innovation Center for Personalized Cancer Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing City 211166, P.R. China. Electronic address: zhougq114@126.com.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To identify genomic regions subject to positive selection that might contain genes involved in high-altitude adaptation (HAA), we performed a genome-wide scan by whole-genome sequencing of Tibetan highlanders and Han lowlanders. We revealed a collection of candidate genes located in 30 genomic loci under positive selection. Among them, MCUR1 at 6p23 was a novel pronounced candidate. By single-cell RNA sequencing and comprehensive functional studies, we demonstrated that MCUR1 depletion leads to impairment of erythropoiesis under hypoxia and normoxia. Mechanistically, MCUR1 knockdown reduced mitochondrial Ca
Indexed as
Adaptation, PhysiologicalErythropoiesisAltitudeCalciumEast Asian PeopleFemaleHumansMaleMitochondriaPolymorphism, Single NucleotideQuantitative Trait LociTibetTranscription, GeneticCalciumerythropoiesisgene regulationhigh-altitude adaptationhuman evolutionhypoxiaMCUR1polymorphismsingle-cell RNA sequencingstanding variantwhole-genome sequencing
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LicenceCC BY-NC-ND
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.