在汉语中对Cis调节元素的适应性选择
Shuai Liu1,2, Huaxia Luo1, Peng Zhang1
1Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China.
Molecular biology and evolution
|February 20, 2024
概括
人类的适应涉及 cis 调节元素,对于抗紫外线和伤口愈合等特征至关重要. 遗传分析揭示了汉语的适应性选择,影响细胞粘附和免疫力,并解释了疾病等位基因的持久性.
科学领域:
- 人类进化基因组学
- 表观遗传学和适应性
背景情况:
- 环节调节元素对于人类的适应至关重要.
- 有限的人口基因组和表观基因组数据阻碍了对这些元素的适应性分析.
研究的目的:
- 在汉族中国人群中全面分析全基因组范围的cis-regulatory元素的适应性选择.
- 调查适应性cis-regulatory元素在人类特征和疾病等位基因维持中的作用.
主要方法:
- 收集了来自4013个与汉族无关的汉族人群的数据.
- 在cis调节元件 (增强剂,促进剂) 上进行适应性选择的全基因组分析.
- 利用基因本体学丰富分析和对特定适应性元素的深入分析.
主要成果:
- 12.34%的基因组区域表现出适应性选择;1.00%的增强剂和2.06%的促进剂处于积极选择之下.
- 阳性选择丰富了细胞-细胞粘附路径;与免疫过程相关的平衡选择.
- 尼安德特人衍生的增强剂提高了紫外线抵抗力;其他元素通过调节凝血和血管生成来增强伤口愈合.
结论:
- 适应性选择在汉族中塑造了 cis-regulatory 元素,影响了关键的生物过程.
- 对调节元件的积极选择可以导致致病性等位基因通过自助旅行的持续存在.
- 这些发现提高了对基因组调节进化和人类适应性的理解.
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