多样化的非洲狩猎采集者的高覆盖全基因组序列的进化历史和适应
Joseph Lachance1, Benjamin Vernot, Clara C Elbers
1Department of Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Cell
|July 31, 2012
概括
现代人类的进化和狩猎采集者的适应性是使用皮格米,哈扎和桑达韦人群的全基因组测序来研究的. 研究结果揭示了与免疫,新陈代谢和繁殖相关的基因中古老的内进和局部适应特征.
科学领域:
- 人类进化遗传学 人类进化遗传学
- 人口基因组学 人口基因组学
- 古代DNA研究研究 古代DNA研究
背景情况:
- 了解人类进化历史对于识别遗传适应至关重要.
- 狩猎采集者种群提供了独特的见解,对人类的适应,由于他们的独特的生活方式.
- 之前的研究已经强调了各种人类群体中古老的内入和局部适应.
研究的目的:
- 为了重建现代人类的进化历史.
- 为了确定负责狩猎采集者适应的遗传位置.
- 为了分析皮格米,哈扎和桑达韦人种群的全基因组序列.
主要方法:
- 来自三个狩猎采集者群体 (皮格米人,哈扎人,桑达韦人) 的15个个体的全基因组测序,覆盖范围>60×.
- 鉴定和分析遗传变异,包括单核酸多态 (SNP) 和结构变异.
- 使用种群遗传方法检测古老的侵入和局部适应的特征.
主要成果:
- 测序确定了1340万种变异,显著扩大了已知的人类变异.
- 在这三种种群体中都发现了古老的侵入的证据,与欧洲人相似的模式.
- 发现了许多表现出局部适应特征的基因位点,包括与免疫,新陈代谢,嗅觉,味觉,生殖和伤口愈合相关的基因.
- 与生长和前垂体功能相关的特定位置,影响身高,在矮人群中被确定.
结论:
- 该研究为了解人类进化历史和适应提供了一个全面的基因组资源.
- 古老的内入行为在这些狩猎采集群体的进化历史上发挥了作用.
- 当地适应已经塑造了狩猎采集群体的关键生物功能,这对人类的多样性产生了影响.
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