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低氧诱导转录因子是关于HIF-1的首次描述,随后发现它能提高多个基因的转录,这些基因可以编码红细胞生成蛋白、血管圆形(血管塑形)蛋白、和糖酵解的蛋白。随后HIF一2被确定,虽然它与HIF--1高度相似,和HIF-1一样有潜能去结合和调节一些同样的基因,但它应对缺氧的生物作用是与HIF-1截然不同。HIF-2介导过程中的一些涉及人们对高原暴露的反应包括红细胞生成、铁稳态、新陈代谢和血管通透性,尤其是最新发现的EPAS-1的突变在适应高原是有可能带来比单一的突变Epo基因更多的优势,除此以外,该基因还是藏族人类适应高原环境的关键基因。本文将对编码HIF-2α的基因EPAS-1的突变进行介绍和说明。
Hypoxia-inducible transcription factors, the first description of HIF-1, were subsequently found to enhance the transcription of multiple genes that could encode erythropoietin, circular (angiogenic) proteins, and glycolytic proteins. Subsequently, HIF-2 was identified. Although it is highly similar to HIF-1 and has the same potential as HIF-1 to bind and regulate some of the same genes, its biological role in hypoxia is distinct from HIF-1. Some of the HIF-2-mediated processes involve reactions to plateau exposure including erythropoiesis, iron homeostasis, metabolism, and vascular permeability. In particular, the recent discovery that mutations in EPAS-1 are likely to result in a plateau In addition, the gene is also a key gene for Tibetans to adapt to the plateau environment. This article describes and describes the mutations in the gene EPAS-1 encoding HIF-2α.