A highland-adaptation variant near MCUR1 reduces its transcription and attenuates erythrogenesis in Tibetans.

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Tác giả: Lingle Chang, Shunqi Chen, Ying Cui, Yongquan Cui, Pengcheng Fan, Rili Ge, Hao Guo, Ying Hao, Fuchu He, Yaoxi He, Qilin Huang, Yuqing Jiang, Wanjun Jin, Longli Kang, Qi Li, Yuanfeng Li, Guanjun Liu, Huifang Liu, Jie Liu, Mengyu Liu, Xinyi Liu, Hao Lu, Hui Lu, Yiming Lu, Huiping Ma, Ouzhuluobu, Jie Ping, Xuebin Qi, Cheng Quan, Bing Su, Cuiling Wang, Xin Wang, Yuting Wang, Xiaojun Wei, Yuan Wei, Shizheng Wu, Tana Wuren, Linpeng Yang, Yujia Zhai, Haoxiang Zhang, Hongxing Zhang, Yang Zhang, Zheng Zhang, Wangshan Zheng, Gangqiao Zhou

Ngôn ngữ: eng

Ký hiệu phân loại: 780.904 1900—1999

Thông tin xuất bản: United States : Cell genomics , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 703535

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
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