调控网络拓和基因表达的遗传结构
Matthew Aguirre1, Jeffrey P Spence2,3,4, Guy Sella5,6
1Department of Biomedical Data Science, Stanford University, Stanford CA.
bioRxiv : the preprint server for biology
|August 20, 2025
概括
大多数基因表达的遗传变异来自跨作用表达定量特征位点 (eQTL). 网络结构,特别是枢纽调节器, 塑造了这种遗传结构, 影响了复杂的特征.
科学领域:
- 遗传学
- 系统生物学
- 生物信息学
背景情况:
- 大多数人类基因表达的遗传变异来自跨作用表达定量特征位点 (eQTL).
- 发现跨eQTL并了解它们对基因表达和复杂特征的累积影响仍然具有挑战性.
- 基因架构和基因调节网络之间的相互作用尚未完全阐明.
研究的目的:
- 研究基因表达的遗传结构如何影响基因调节网络.
- 模拟基因表达调节及其与网络属性的相互作用.
- 了解表达遗传性的基因组分布.
主要方法:
- 开发了基因表达调节的结构性因果模型.
- 模拟基因调节网络,包括网络动机和枢纽调节器.
- 分析了cis和trans遗传性的基因组分布.
主要成果:
- 基因表达的遗传结构主要是由局部网络动机和枢纽调节器形成的.
- 枢纽调节器作为基因变异的关键来源,并缩短网络路径.
- 用图案和枢纽丰富的模拟网络准确地反映了观察到的cis和trans遗传模式.
结论:
- 基因表达的遗传结构比简单的模型更稀疏,更为多样化.
- 对于理解基因表达的遗传性而言,网络属性,特别是枢纽和动机至关重要.
- 这些发现对未来对复杂特征和遗传调节的研究具有重要意义.
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