Population Genomics of Human Adaptation.

Population Genomics of Human Adaptation.
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DOI:
10.1146/annurev-ecolsys-110512-135833
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发表时间:
2013-11
期刊:
Annual review of ecology, evolution, and systematics
影响因子:
--
通讯作者:
Tishkoff SA
Tishkoff SA
中科院分区:
其他
文献类型:
--
作者:
Lachance J;Tishkoff SA

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基因分型技术的最新进展促进了对自然选择的全基因组扫描。确定自然选择的目标将有助于揭示人类适应和进化的过程,并可能对确定既影响正常人类表型变异又影响疾病易感性的变异很重要。在这里,我们重点研究现代人的自然选择,他们起源于大约20万年前的非洲,并在大约50,000-100,000年前迁徙到全球各地。进入新的环境,以及文化和技术的变化,包括动植物驯化,导致当地适应不同的环境。我们总结了用于检测自然选择的目标和区分人口历史和自然选择的影响的统计方法。在全基因组范围内,免疫相关基因似乎是积极选择的主要目标。与生殖和生育相关的基因似乎也在快速进化。最近人类适应的其他例子包括与乳糖酶持久性、内分泌腺和对低氧反应相关的基因。最后,我们强调有必要用功能研究来补充选择扫描,以证明候选基因座的生理影响。
Recent advances in genotyping technologies have facilitated genome-wide scans for natural selection. Identification of targets of natural selection will shed light on processes of human adaptation and evolution and could be important for identifying variation that influences both normal human phenotypic variation as well as disease susceptibility. Here we focus on studies of natural selection in modern humans who originated ~200,000 years go in Africa and migrated across the globe ~50,000 – 100,000 years ago. Movement into new environments, as well as changes in culture and technology including plant and animal domestication, resulted in local adaptation to diverse environments. We summarize statistical approaches for detecting targets of natural selection and for distinguishing the effects of demographic history from natural selection. On a genome-wide scale, immune-related genes appear to be major targets of positive selection. Genes associated with reproduction and fertility also appear to be fast evolving. Additional examples of recent human adaptation include genes associated with lactase persistence, eccrine glands, and response to hypoxia. Lastly, we emphasize the need to supplement scans of selection with functional studies to demonstrate the physiologic impact of candidate loci.
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