在人类免疫基因中解开古老的侵入和基因组选择的选择特征
Alina Urnikyte1, Abigaile Masiulyte1, Laura Pranckeniene1
1Faculty of Medicine, Department of Human and Medical Genetics, Institute of Biomedical Sciences, Vilnius University, Santariskiu Street 2, Vilnius LT-08661, Lithuania.
概括
现代人类从尼安德特人那里继承了免疫基因变异,影响了适应HIV和SARS-CoV-2等传染病的情况. 这项研究揭示了尼安德特人的DNA.
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.
- 免疫学 免疫学 免疫学
背景情况:
- 传染病对人类基因组施加强大的选择性压力.
- 现代人类拥有通过与尼安德特人等古代人类交配获得的免疫变体.
- 这些进化变异对人类特征的功能影响仍然不完全理解.
研究的目的:
- 识别与传染病适应相关的积极选择的遗传特征.
- 调查尼安德特人等位基因在立陶宛人群中的功能作用.
- 探索进化免疫基因和病原体蛋白之间的相互作用.
主要方法:
- 利用机器学习工具ArchIE来识别入侵的基因组区域.
- 应用了iHS (综合哈普洛型得分) 方法来检测最近积极选择的签名.
- 在50个立陶宛基因组中分析了尼安德特人等位基因.
主要成果:
- 在先天免疫基因 (例如EMB,PARP8,HLAC,CDSN) 中检测到强烈的积极选择信号.
- 确定了这些基因与人类免疫缺陷病毒 (HIV) 1和严重急性呼吸系统综合征冠状病毒 2 (SARS-CoV-2) 的结构蛋白之间的相互作用.
- 来自尼安德特人的基因组区域被丰富为参与免疫力,角质细胞分化和感官感知的基因.
结论:
- 尼安德特人的内向性显著促进了人类对病原体的适应.
- 特定的尼安德特人等位基因赋予了对某些病毒感染免疫力的功能优势.
- 这些发现突显了古老的侵入对人类健康和疾病耐药性的持续进化影响.
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