线粒体DNA基因组揭示了在最后一个冰川最大期之后的人口扩张期间的放松净化选择
Hong-Xiang Zheng1,2, Shi Yan3,4, Menghan Zhang5,6
1State Key Laboratory of Genetic Engineering, School of Life Sciences, Human Phenome Institute and Center for Evolutionary Biology, Fudan University, Shanghai, China.
Molecular biology and evolution
|August 20, 2024
概括
最近的人口扩张可能已经放松了自然选择,允许轻微有害的突变持续存在. 这种遗传遗产可能会影响现代疾病模式.
科学领域:
- 人类进化人类的进化.
- 人口遗传学 人口遗传学
- 基因组学就是基因组学.
背景情况:
- 现代人类人口在过去的千年中经历了快速增长.
- 这种扩张可能与较轻松的选择性压力有关,这是由于上一次冰川最大后资源增加所致.
研究的目的:
- 调查东欧亚地区的人口扩张是否与改变的选择性约束有关.
- 确定这些变化的对突变模式和潜在疾病影响的影响.
主要方法:
- 使用26,419个东欧亚洲线粒体DNA基因组重建一个高分辨率的家族遗传树.
- 基因组根据创始人血统频率分为扩张和非扩张组的分类.
- 对非同义词与同义词 (N/S) 突变比率进行分析,以评估选择性约束.
主要成果:
- 扩张组与非扩张组相比,在扩张组中观察到显著更高的N/S比率.
- 这种较高的比率在中度有害的非同义突变中尤为明显,表明净化选择较弱.
- 在统一的选择约束下进行的计算机模拟没有复制这些发现,支持差异性选择压力.
结论:
- 扩大的人类群体与未扩大的群体相比,经历了放松的选择性约束.
- 在人口扩张期间,轻微有害的突变被保留了.
- 这些发现表明,历史人口动态与当代疾病易感性之间存在潜在联系.
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