Dissecting the eQTL Micro-Architecture in Caenorhabditis elegans.

Dissecting the eQTL Micro-Architecture in Caenorhabditis elegans.
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DOI:
10.3389/fgene.2020.501376
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发表时间:
2020
影响因子:
3.7
通讯作者:
Snoek BL
Snoek BL
中科院分区:
生物学3区
文献类型:
--
作者:
Sterken MG;Bevers RPJ;Volkers RJM;Riksen JAG;Kammenga JE;Snoek BL

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利用近交群体中的自然变异对表达数量性状基因座(eQTL)的研究已经获得了关于复杂性状的转录调控的详细信息。利用重组自交系(RILs)对eQTL的研究使人们对转录本丰度的顺式和反式调控位点有了新的认识。然而,确定潜在的因果多态性基因或变异是困难的,但最终是必不可少的复杂性状的调控网络的理解。这需要深入了解相关基因座是单个eQTL还是紧密连锁的eQTL的组合,以及该QTL微结构如何取决于环境。我们解决了这些问题,通过测试独立复制先前映射的eQTL在秀丽隐杆线虫基因渗入系(IL)的新数据。这两个群体表明,基因表达的整体遗传力,数量和位置的eQTL不同的环境。在不同环境中,我们能够使用IL复制70%的顺式eQTL和40%的反式eQTL。测试八个不同的模拟模型,我们建议,加性效应解释高达60-93%的RIL/IL遗传力的所有三个环境。在对照环境中,紧密连锁的eQTL解释了高达40%的RIL/IL遗传力,而在热应激和恢复环境中仅解释了7%。总之,我们表明,重复性的eQTL是更高的顺式与反式eQTL和环境影响eQTL的微架构。
The study of expression quantitative trait loci (eQTL) using natural variation in inbred populations has yielded detailed information about the transcriptional regulation of complex traits. Studies on eQTL using recombinant inbred lines (RILs) led to insights on cis and trans regulatory loci of transcript abundance. However, determining the underlying causal polymorphic genes or variants is difficult, but ultimately essential for the understanding of regulatory networks of complex traits. This requires insight into whether associated loci are single eQTL or a combination of closely linked eQTL, and how this QTL micro-architecture depends on the environment. We addressed these questions by testing for independent replication of previously mapped eQTL in Caenorhabditis elegans using new data from introgression lines (ILs). Both populations indicate that the overall heritability of gene expression, number, and position of eQTL differed among environments. Across environments we were able to replicate 70% of the cis- and 40% of the trans-eQTL using the ILs. Testing eight different simulation models, we suggest that additive effects explain up to 60–93% of RIL/IL heritability for all three environments. Closely linked eQTL explained up to 40% of RIL/IL heritability in the control environment whereas only 7% in the heat-stress and recovery environments. In conclusion, we show that reproducibility of eQTL was higher for cis vs. trans eQTL and that the environment affects the eQTL micro-architecture.
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