HMOX2 Functions as a Modifier Gene for High-Altitude Adaptation in Tibetans
文献类型：期刊论文
| 作者 | Yang DY1,2; Peng Y1; Ouzhuluobu3; Bianbazhuoma4; Cui CY3; Bianba3; Wang LB5; Xiang K1; He YX1,2; Zhang H1 |
| 刊名 | HUMAN MUTATION
 |
| 出版日期 | 2016 |
| 卷号 | 37期号:2页码:216-223 |
| 关键词 | HMOX2 Tibetans high altitude hemoglobin adaptation |
| 通讯作者 | qixuebin@mail.kiz.ac.cn ; sub@mail.kiz.ac.cn |
| 合作状况 | 其它 |
| 英文摘要 | Tibetans are well adapted to high altitude environments. Among the adaptive traits in Tibetans, the relatively low hemoglobin level is considered a blunted erythropoietic response to hypoxic challenge. Previously, EPAS1 and EGLN1, the major upstream regulators in the hypoxic pathway were reportedly involved in the hemoglobin regulation in Tibetans. In this study, we report a downstream gene (HMOX2) involved in heme catabolism, which harbors potentially adaptive variants in Tibetans. We first re-sequenced the entire genomic region (45.6 kb) of HMOX2 in Tibetans, which confirmed the previously suspected signal of positive selection onHMOX2 in Tibetans. Subsequent association analyses of hemoglobin levels in two independent Tibetan populations (a total of 1,250 individuals) showed a male-specific association between the HMOX2 variants and hemoglobin levels. Tibetan males with the derived C allele at rs4786504:T>C displayed lower hemoglobin level as compared to the T allele carriers. Furthermore, our in vitro experiments indicated that the C allele of rs4786504 could increase the expression of HMOX2, presumably leading to a more efficient breakdown of heme that may help maintain a relatively low hemoglobin level at high altitude. Collectively, we propose thatHMOX2 contributes to high altitude adaptation in Tibetans by functioning as a modifier in the regulation of hemoglobin metabolism. |
| 收录类别 | SCI |
| 资助信息 | Strategic Priority Research Program of the Chinese Academy of Sciences (XDB13010000); the National 973 Program of China (2012CB518202);the National Natural Science Foundation of China(31401064,31130051, 91231203,31371269,31460287,31360032,and81460012);StateKeyLaboratoryofGenetic Resources and Evolution (GREKF12-04, GREKF13-04); the Zhufeng Scholar Program of Tibetan University. |
| 语种 | 英语 |
| 源URL | [http://159.226.149.26:8080/handle/152453/9508]  |
| 专题 | 昆明动物研究所_比较基因组学 昆明动物研究所_遗传资源与进化国家重点实验室 |
| 作者单位 | 1.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China 2.Kunming College of Life Science, University of Chinese Academy of Sciences, Beijing 100049, China 3.High Altitude Medical Research Center, School of Medicine, Tibetan University, Lhasa 850000, China 4.The Municipal People’s Hospital of Lhasa, Lhasa 850000, Tibet, China 5.National Key Laboratory of High Altitude Medicine, High Altitude Medical Research Institute, Xining 810012, China 6.Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, Yunnan 650500, China 7.Center for Computational Genomics, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China |
| 推荐引用方式 GB/T 7714 | Yang DY,Peng Y,Ouzhuluobu,et al. HMOX2 Functions as a Modifier Gene for High-Altitude Adaptation in Tibetans[J]. HUMAN MUTATION,2016,37(2):216-223. |
| APA | Yang DY.,Peng Y.,Ouzhuluobu.,Bianbazhuoma.,Cui CY.,...&Su B[*].(2016).HMOX2 Functions as a Modifier Gene for High-Altitude Adaptation in Tibetans.HUMAN MUTATION,37(2),216-223. |
| MLA | Yang DY,et al."HMOX2 Functions as a Modifier Gene for High-Altitude Adaptation in Tibetans".HUMAN MUTATION 37.2(2016):216-223. |
入库方式： OAI收割
来源：昆明动物研究所
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