人类和老鼠精子中的rDNA复制数变异和甲基化
Ramya Potabattula1, Marcus Dittrich1,2, Thomas Hahn3
1Institute of Human Genetics, Julius Maximilians University, 97074 Würzburg, Germany.
International journal of molecular sciences
|May 14, 2025
概括
父亲的年龄会影响精子中的rDNA甲基化,小鼠的低甲基化比人类多. 这种与年龄相关的表观遗传变化是保留的,但在物种之间存在差异,可能会影响胚胎发育.
科学领域:
- 生殖生物学 生殖生物学
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
- 基因组学就是基因组学.
背景情况:
- 核糖体DNA (rDNA) 拷贝数 (CN) 和甲基化对于基因调节至关重要.
- 父亲年龄越来越被认为是影响精子表观遗传和后代健康的因素.
- 了解生殖系表观遗传学中的特定物种差异对于生殖科学至关重要.
研究的目的:
- 为了研究人类和小鼠精子中的绝对和活性rDNA复制数 (CN).
- 检查父亲年龄对两种物种rDNA甲基化模式的影响.
- 为了比较人类和小鼠之间的rDNA甲基化动态和父亲年龄的影响.
主要方法:
- 滴滴数字PCR (ddPCR) 用于绝对的rDNA复制数量定量.
- 深度二硫酸盐测序用于分析rDNA甲基化状态.
- 在不同父亲年龄段对人类和小鼠精子样本进行比较分析.
主要成果:
- 绝对rDNA CN的差异很大,与老鼠精子相比,人类精子的数量更高.
- 在两种物种中,随着父亲的年龄和绝对CN的增加,rDNA调节区域的甲基化增加.
- 与人类精子相比,小鼠精子表现出更明显的rDNA低甲基化,特别是在促进器区域.
- 尽管在人类中CN较高,但低甲基化促进体副本的数量是可比的,但甲基化误差不同.
- 父亲年龄对rDNA甲基化的影响保持不变,但显示出特定物种的模式,人类的低甲基化拷贝减少,小鼠的非甲基化拷贝减少.
结论:
- 生殖线rDNA甲基化动态显示了人类和小鼠之间的显著物种特异性差异,可能与生殖策略和胚胎发育时间有关.
- 在小鼠中,精子rDNA促进体的完全去甲基化可能有助于早期胚胎基因组的激活.
- 在rDNA甲基化上保留但明显的父亲年龄影响突显了物种之间衰老,表观遗传学和繁殖之间的复杂相互作用.
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