在胚胎生成过程中调节表达水平和异型多样性的遗传变异
Enrico Cannavò1, Nils Koelling2, Dermot Harnett1
1European Molecular Biology Laboratory (EMBL), Genome Biology Unit, D-69117 Heidelberg, Germany.
Nature
|December 27, 2016
概括
遗传变异在胚胎发育过程中显著影响基因表达,影响转录和RNA处理. 研究人员发现了成千上万种影响Drosophila不同发育阶段基因调节的遗传变异.
科学领域:
- 发育生物学
- 遗传学
- 基因组学
背景情况:
- 胚胎发育依赖于精确的基因表达模式,但个体的遗传变异可以影响这些过程.
- 之前关于表达定量特征位置 (eQTL) 的研究表明,遗传变异会影响细胞培养和成年组织中的基因表达,但其在胚胎发生中的作用不太清楚.
研究的目的:
- 调查基因变异对转录和转录后调节在甲基动物胚胎发育过程中的影响.
- 确定在胚胎发生过程中控制基因表达的特定遗传变异和调控机制.
主要方法:
- 在多个发育阶段分析了80个内生Drosophila野生分离物中的基因表达和3'RNA处理.
- 使用Drosophila的短链不平衡块实现的高分辨率映射,以确定因果基因变异.
- 鉴定了基因表达水平和RNA处理事件的定量特征位置 (QTL).
主要成果:
- 发现了成千上万的发育阶段特定和共享的QTL,揭示了胚胎发生过程中对基因表达的广泛遗传控制.
- 解决了发育增强剂的因果突变,并确定了缓冲基因表达变化的等位基因相互作用.
- 确定了影响3'RNA处理的QTL,揭示了驱动转录异形多样性和改变3'未翻译区域长度的新动机.
结论:
- 发育阶段显著调节基因变异对基因调节的影响.
- 遗传变异通过多种机制影响胚胎基因表达,包括增强剂活性和RNA处理.
- 复杂的调节网络和缓冲机制确保了胚胎发生过程中强大的基因表达模式,尽管存在遗传多样性.
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