在人类和黑猩猩之间共享的古老平衡选择的多个实例
Ellen M Leffler1, Ziyue Gao, Susanne Pfeifer
1Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA. emleffler@uchicago.edu
概括
自然选择很少在数百万年内保持遗传变异. 这项研究发现,古代平衡选择塑造了人类的遗传变异,特别是在与宿主-病原体相互作用相关的基因中.
科学领域:
- 进化遗传学的进化遗传学
- 人类基因组学 人类基因组学
- 人口遗传学 人口遗传学
背景情况:
- 在长时间内保持遗传变异的平衡选择在进化历史上被认为是罕见的.
- 了解保护遗传多样性的机制对于理解物种适应至关重要.
研究的目的:
- 通过基因组识别长寿平衡选择的实例.
- 为了研究塑造人类和黑猩猩之间共同的遗传变异的进化力量.
主要方法:
- 全基因组扫描用于人类和黑猩猩之间共享的单核酸多态 (SNP) 和单核型.
- 分析非编码和编码区域的祖先多态的证据.
- 对特定基因功能的确定的区域进行丰富分析.
主要成果:
- 确定了125个基因组区域,分离人类和黑猩猩之间共享的单元类型,超出主要的组织相容性复合体.
- 在六个地区发现了祖先多态的证据.
- 观察到膜糖蛋白和相关编码多态的共享单元型区域的显著丰富.
结论:
- 古代平衡选择在塑造人类遗传变异方面发挥了重要作用.
- 参与宿主-病原体相互作用的基因经常是这个古老的平衡选择的目标.
- 这些发现挑战了长期平衡选择极为罕见的观念.
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