预测英国最近自然选择的功能后果
Lin Poyraz1,2, Laura L Colbran1, Iain Mathieson1
1Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Molecular biology and evolution
|March 11, 2024
概括
古代DNA揭示了自然选择如何影响人类基因表达超过4,500年. 研究人员使用关节组织输入 (JTI) 来预测基因表达变化,在28个基因中发现了显著的转变.
科学领域:
- 人类进化遗传学人类进化遗传学
- 古遗传学是古遗传学的一部分.
- 分子进化的分子进化.
背景情况:
- 古代DNA分析识别了基因组选择信号,但难以推断表型后果.
- 非编码变体对选择的表型效应有显著的贡献,使得基因表达分析至关重要.
研究的目的:
- 通过分析随着时间的推移预测基因表达的变化,推断自然选择的表型后果.
- 为了确定基因和基因组位置显示显著的表达转移由于古代英国人群的选择.
主要方法:
- 利用关节组织推断 (JTI) 来从古代和当今个体的基因型数据预测基因表达.
- 在4500年的时间跨度中,对17,384个蛋白质编码基因进行了全转录组扫描.
- 与全基因组扫描结果进行比较,估计每个单核酸多态性 (SNP) 选择系数.
主要成果:
- 在七个基因组位置确定了28个基因,在4500年内预测表达的显著变化 (FDR <0.05).
- 突出了在先前确定的基因位点表达转移的特定基因,并发现了在两个新型基因位点 (SLC44A5和NUP85) 的基因表达选择.
- 证明将经典选择统计 (iHS,SDS) 与JTI模型相结合,可以将功能信息纳入当今的数据扫描中.
结论:
- 使用古代DNA预测基因表达分析提供了一种强大的方法来探索自然选择的表型后果.
- 这种方法可以识别对基因表达起作用的选择,即使在传统基因组扫描无法检测到的位置.
- 将功能数据与基因组扫描集成,可以增强对人类进化的原因和后果的理解.
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