Department of Pediatrics (Division of Respiratory Medicine) and.
Annu Rev Genomics Hum Genet. 2013;14:25-43. doi: 10.1146/annurev-genom-091212-153439. Epub 2013 Jun 26.
Oxygen is essential for metazoans' life on earth. Oxygen deprivation, or hypoxia, contributes significantly to the pathophysiology of many human diseases. A better understanding of the fundamental molecular and genetic basis for adaptation to low-oxygen environments will help us develop therapeutic strategies to prevent or treat diseases that have hypoxia as a major part of their pathogenesis. Different cells and organisms have evolved different ways to cope with this life-threatening challenge, and the molecular and genetic mechanisms remain largely unknown. The current revolution of genomic technology has advanced our understanding of the genetic basis of many diseases and conditions, including hypoxia tolerance and susceptibility. In this review, we highlight the progress made in understanding the molecular responses to hypoxia in an animal model organism (Drosophila melanogaster) and genetic adaptation to high-altitude hypoxia in humans.
氧气对于地球上海洋生物的生存至关重要。缺氧（氧气缺乏）是导致许多人类疾病病理生理学的主要因素。更好地了解适应低氧环境的基本分子和遗传基础，将有助于我们开发治疗策略，以预防或治疗以缺氧为主要发病机制的疾病。不同的细胞和生物已经进化出不同的方法来应对这一威胁生命的挑战，而其分子和遗传机制在很大程度上仍然未知。目前基因组技术的革命推动了我们对许多疾病和状况（包括耐缺氧和易缺氧）的遗传基础的理解。在这篇综述中，我们重点介绍了在动物模型生物（黑腹果蝇）中对缺氧分子反应的理解以及人类对高海拔缺氧的遗传适应方面的进展。
