Genetic differences in human circadian clock genes among worldwide populations.

Genetic differences in human circadian clock genes among worldwide populations.
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全球人群中人类生物钟基因的遗传差异。

DOI:
10.1177/0748730408320284
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发表时间:
2008-08
影响因子:
3.5
通讯作者:
Johnson CH
Johnson CH
中科院分区:
生物学3区
文献类型:
--
作者:
Ciarleglio CM;Ryckman KK;Servick SV;Hida A;Robbins S;Wells N;Hicks J;Larson SA;Wiedermann JP;Carver K;Hamilton N;Kidd KK;Kidd JR;Smith JR;Friedlaender J;McMahon DG;Williams SM;Summar ML;Johnson CH

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日常生物钟调节睡眠和生理过程的时间,这些过程对人类健康,表现和幸福至关重要。与生物钟相关的环境参数包括(i)光照强度和温度的每日波动,以及(ii)光周期(日照长度)和温度的季节性变化;这些参数随纬度和地点的变化而变化。在人类以外的许多物种中,自然选择在基因上优化了沿着纬度倾斜的适应性。人类生物钟基因等位基因沿纬度/光周期渐变系选择的证据是否存在?人类时钟基因Per2、Per3、Clock和AANAT中的许多多态性已被报道为可以进行选择的等位基因。此外,这项研究发现了人类Arntl和Arntl2基因中的几种新的多态性,这些多态性可能对这些时钟转录因子的表达具有功能性影响。这些时钟基因多态性的频率分布报告了不同人群的非洲裔美国人,欧洲裔美国人,加纳人,中国汉族人和巴布亚新几内亚人(包括五个亚群内巴布亚新几内亚)。各群体间的钟基因等位基因频率分布存在显著差异。群体遗传学分析表明,这些差异很可能来自遗传漂变,而不是自然选择。
The daily biological clock regulates the timing of sleep and physiological processes that are of fundamental importance to human health, performance, and well-being. Environmental parameters of relevance to biological clocks include (i) daily fluctuations in light intensity and temperature, and (ii) seasonal changes in photoperiod (daylength) and temperature; these parameters vary dramatically as a function of latitude and locale. In wide-ranging species other than humans, natural selection has genetically optimized adaptiveness along latitudinal clines. Is there evidence for selection of clock gene alleles along latitudinal/photoperiod clines in humans? A number of polymorphisms in the human clock genes Per2, Per3, Clock, and AANAT have been reported as alleles that could be subject to selection. In addition, this investigation discovered several novel polymorphisms in the human Arntl and Arntl2 genes that may have functional impact upon the expression of these clock transcriptional factors. The frequency distribution of these clock gene polymorphisms is reported for diverse populations of African Americans, European Americans, Ghanaians, Han Chinese and Papua New Guineans (including five subpopulations within Papua New Guinea). There are significant differences in the frequency distribution of clock gene alleles among these populations. Population genetic analyses indicate that these differences are likely to arise from genetic drift rather than from natural selection.
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