Evolutionary adaptation to high altitude: a view from in utero.

Evolutionary adaptation to high altitude: a view from in utero.
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DOI:
10.1002/ajhb.20900
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发表时间:
2009-09
影响因子:
2.9
通讯作者:
Moore, Lorna G.
Moore, Lorna G.
中科院分区:
医学4区
文献类型:
--
作者:
Julian, Colleen Glyde;Wilson, Megan J.;Moore, Lorna G.

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生物人类学的一个主要焦点是阐明进化适应的过程。A.罗伯托·弗里桑乔(Roberto Frisancho)通过提请人们注意人类变异的功能相关性的重要性,帮助人类学朝着人类适应的更机械的解释方向发展。他和其他人利用高海拔的自然实验室,询问土著高海拔居民的独特生理是否是适应高海拔环境、发育可塑性和/或遗传适应的结果。我们从一个独特Vantage来探讨人类适应高海拔的问题,即通过研究与生殖健康密切相关的生理特征--怀孕和怀孕结果。在这里,我们回顾了高海拔本地人口的抵抗缺氧相关的出生体重下降,这往往是与高海拔地区的婴儿发病率和死亡率较高的有力的例子。除了最近的两篇出版物,这些比较出生体重的研究利用姓氏,自我认同和/或语言特征来评估血统,没有一个将“有利”的表型与特定的遗传变异联系起来。遗传和统计工具的最新进展使我们能够以更高的分辨率评估个体祖先,确定复杂表型的遗传基础,并推断自然选择对特定基因区域的影响。利用这些技术,我们的研究现在旨在确定高海拔祖先保护胎儿生长的机制背后的遗传变异,进而进一步了解人类适应高海拔的进化过程。
A primary focus within biological anthropology has been to elucidate the processes of evolutionary adaptation. A. Roberto Frisancho helped move anthropology towards more mechanistic explanations of human adaptation by drawing attention to the importance of the functional relevance of human variation. Using the natural laboratory of high altitude, he and others asked whether the unique physiology of indigenous high-altitude residents was the result of acclimatization, developmental plasticity and/or genetic adaptation in response to the high-altitude environment. We approach the question of human adaptation to high altitude from a somewhat unique vantage point; namely, by examining physiological characteristics – pregnancy and pregnancy outcome -- that are most closely associated with reproductive fitness. Here we review the potent example of high-altitude native population’s resistance to hypoxia-associated reductions in birth weight, which is often associated with higher infant morbidity and mortality at high altitude. With the exception of two recent publications, these comparative birth weight studies have utilized surnames, self-identification and/or linguistic characteristics to assess ancestry, and none have linked ‘advantageous’ phenotypes to specific genetic variations. Recent advancements in genetic and statistical tools have enabled us to assess individual ancestry with higher resolution, identify the genetic basis of complex phenotypes and to infer the effect of natural selection on specific gene regions. Using these technologies our studies are now directed to determine the genetic variations that underlie the mechanisms by which high-altitude ancestry protects fetal growth and, in turn, to further our understanding of evolutionary processes involved in human adaptation to high altitude.
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