遗传变异对发育过程中的基因表达动态的影响
Mirko Francesconi1, Ben Lehner2
11] EMBL-CRG Systems Biology Unit, Centre for Genomic Regulation (CRG), Dr. Aiguader 88, 08003 Barcelona, Spain [2] Universitat Pompeu Fabra (UPF), Dr. Aiguader 88, 08003 Barcelona, Spain.
Nature
|November 26, 2013
概括
遗传变异在发育过程中显著影响基因表达动态. 这项研究揭示了50%以上的cis表达定量特征位点 (eQTLs),并突出了遗传变异如何影响基因表达变化的时间和速率.
科学领域:
- 基因组学就是基因组学.
- 发展生物学 发展生物学
- 系统生物学 系统生物学
背景情况:
- 多细胞发育和生理学依赖于协调的基因表达变化.
- 表达量的特征位点 (eQTLs) 将影响基因表达的遗传变异映射出来,但它们的动态影响尚不清楚.
- 之前的研究已经确定了细胞,组织和年龄依赖的eQTL,但缺乏全面的动态表征.
研究的目的:
- 开发一种有效的方法,从静态配置文件中推断基因表达动态.
- 描述 cis 和 trans 基因变异在发育过程中对基因表达动态的影响.
- 提供第一个对遗传变异对长期基因表达动态影响的综合分析.
主要方法:
- 开发了一种实验设计,从不同基因型的单个表达特征推断基因表达动态.
- 应用这种方法研究基因表达在12小时的时间内在Caenorhabditis elegans发育.
- 分析了局部 (cis) 和远程 (trans) 基因变异对基因表达时间,速率,大小和形状的影响.
主要成果:
- 当考虑动态变异时,确定了50%以上的cis-eQTL,包括影响表达动态的900多个.
- 局部序列多态性显著改变了基因表达变化的时间,速率,大小和形状.
- 距离 (跨) 位置广泛影响表达动态,经常在特定的发育间隔期间作为修饰剂.
结论:
- 遗传变异极大地影响了在发育过程中基因表达的动态模式.
- 开发的方法使动态生物过程的基因剖析成为可能.
- 这项研究为了解人类对发育,生理学和疾病进展的遗传影响奠定了基础.
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