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全基因组测序揭示了非洲人口复杂的历史和当地适应的特征
Shaohua Fan1, Jeffrey P Spence2, Yuanqing Feng3
1State Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, School of Life Science, Fudan University, Shanghai, 200438, China; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.
Cell
|March 3, 2023
概括
非洲的基因组显示出深层人口结构和古老的混合物. 非洲原住民群体表现出独特的遗传适应性,包括与圣人群体的皮肤色素相关的.
科学领域:
- 人口遗传学
- 人类的进化
- 基因组学
背景情况:
- 非洲是人类基因最多样化的所在地,
- 全基因组测序为人口结构,混合和适应提供了强大的洞察力.
研究的目的:
- 描述非洲土著人口的遗传多样性和深厚的人口历史.
- 识别新型变种,古老的侵袭事件和本地适应的特征.
主要方法:
- 来自12个不同非洲群体的180个个体的全基因组测序.
- 生物信息分析以识别变体,推断种群结构,检测混合物和精确选择.
主要成果:
- 数以百万计的新基因变异的鉴定,其中许多具有预测的功能重要性.
- 发现山族和雨林狩猎采集者祖先的深度分歧 (>200基亚),以及古代人口结构的证据.
- 从以前未知的 ("幽灵") 种群中检测出多个内进事件,并在 Khoesan 群体之间持续基因流动,直到 ~12 kya.
- 识别包括皮肤颜色,免疫力,身高和新陈代谢在内的特征的局部适应特征,其中具有特定的积极选择的变异影响了圣人个体的色素.
结论:
- 这项研究揭示了非洲人口的复杂历史,
- 与当地环境相关的遗传适应和颜色等特征是由进化压力塑造的.
- 这项研究强调了研究非洲基因组的重要性,
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