Human Genetic Adaptation to High Altitudes: Current Status and Future Prospects.
Human Genetic Adaptation to High Altitudes: Current Status and Future Prospects.
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人类遗传适应高海拔：当前状态和未来前景。
DOI：
10.1016/j.quaint.2016.09.045
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发表时间：
2017-12-15
期刊：
影响因子：
--
通讯作者：
Moore LG
中科院分区：
文献类型：
--
作者：
Moore LG
自从20世纪初开始在那里进行研究以来，人类是否已经从基因上适应了高海拔的问题一直是人们感兴趣的问题。最初，关于遗传适应高海拔是否发生了争论，部分是基于学科方向和正在考虑的证据来源。研究的重点是短期反应，称为适应，以及一生中发生的发育变化。随着用于检测自然选择证据的单核苷酸多态(SNP)技术和统计方法的出现，发生了范式转变，导致报告遗传适应的出版物数量指数上升。这里回顾了评估高海拔适应的各种证据，这些证据使人们普遍接受了高海拔遗传适应已经发生的观点。虽然在确定所涉及的一个或多个特定基因及其发挥作用的生理机制方面仍然存在方法学和其他挑战，但最近在藏人、安第斯人和埃塞俄比亚人的研究表明，已经取得了相当大的进展。随着新的统计方法、全基因组测序和其他分子技术的出现，预计将取得进一步的进展，以进行更精细的遗传图谱绘制，并加强学科内和学科间的合作，以确定所涉及的基因或基因区域的功能后果和所涉及的时间尺度。
The question of whether human populations have adapted genetically to high altitude has been of interest since studies began there in the early 1900s. Initially there was debate as to whether genetic adaptation to high altitude has taken place based, in part, on disciplinary orientation and the sources of evidence being considered. Studies centered on short-term responses, termed acclimatization, and the developmental changes occurring across lifetimes. A paradigm shift occurred with the advent of single nucleotide polymorphism (SNP) technologies and statistical methods for detecting evidence of natural selection, resulting in an exponential rise in the number of publications reporting genetic adaptation. Reviewed here are the various kinds of evidence by which adaptation to high altitude has been assessed and which have led to widespread acceptance of the idea that genetic adaptation to high altitude has occurred. While methodological and other challenges remain for determining the specific gene or genes involved and the physiological mechanisms by which they are exerting their effects, considerable progress has been realized as shown by recent studies in Tibetans, Andeans and Ethiopians. Further advances are anticipated with the advent of new statistical methods, whole-genome sequencing and other molecular techniques for finer-scale genetic mapping, and greater intradisciplinary and interdisciplinary collaboration to identify the functional consequences of the genes or gene regions implicated and the time scales involved.
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影响因子：
3.3
作者：
DEGRAFF, AC;GROVER, RF;MILLER, JM
通讯作者：
MILLER, JM
影响因子：
2.8
作者：
DROMA, T;MCCULLOUGH, RG;MOORE, LG
通讯作者：
MOORE, LG
DOI：
10.1073/pnas.1002443107
发表时间：
2010-06-22
影响因子：
11.1
作者：
Beall, Cynthia M.;Cavalleri, Gianpiero L.;Zheng, Yong Tang
通讯作者：
Zheng, Yong Tang
影响因子：
4.6
作者：
Fehren-Schmitz L;Georges L
通讯作者：
Georges L
影响因子：
4.5
作者：
Alkorta-Aranburu G;Beall CM;Witonsky DB;Gebremedhin A;Pritchard JK;Di Rienzo A
通讯作者：
Di Rienzo A