来自古人类的进化线粒体碎片改变了现代人类的核基因组功能
Qiong Zhu1, Jinning Zhang1, Weichen Zhou2
1State Key Laboratory of Genetics and Development of Complex Phenotypes, Center for Evolutionary Biology, School of Life Science, Fudan University, Shanghai 200438, China.
Science advances
|February 4, 2026
概括
来自古人类的核线粒体DNA段 (NUMT) 被整合到现代人类基因组中. 这些内进的NUMT影响基因表达和染色质结构,影响人类的进化和适应.
科学领域:
- 基因组学就是基因组学.
- 人类进化人类进化
- 分子生物学分子生物学
背景情况:
- 古老的侵入引入了现代人类的功能性遗传变异.
- 在这种情况下,小规模的插入,特别是核线粒体DNA细分 (NUMT) 是不充分研究的.
研究的目的:
- 在现代和古老的人类基因组中系统地描述NUMT.
- 识别入侵的NUMT并调查它们对现代人类基因组的功能影响.
主要方法:
- 分析了2519个现代人类基因组和四个古老的人类基因组.
- 遗传学分析,插入时间估计和哈普罗型同居化.
- 功能性测试用于评估基因表达和染色体结构调制.
主要成果:
- 在现代人类中发现了483个多态NUMT,在古老的基因组中发现了10个.
- 鉴定了五个从古老的原始人向现代人类侵入的NUMT.
- 证明内进的NUMT可以调节基因表达 (例如,上调RASGRP3) 和重塑染色质结构 (例如,在SCD5和HNRNPD位置).
结论:
- 整合到核基因组中的古老的线粒体碎片代表了一个被低估的进化影响机制.
- 内向的NUMT是积极塑造核基因组功能的动态元素,有助于现代人类的多样性和适应性.
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