Center for Quantitative Biology, Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China.
PLoS Genet. 2013 Mar;9(3):e1003414. doi: 10.1371/journal.pgen.1003414. Epub 2013 Mar 28.
Expression quantitative trait loci (eQTL) studies have generated large amounts of data in different organisms. The analyses of these data have led to many novel findings and biological insights on expression regulations. However, the role of epistasis in the joint regulation of multiple genes has not been explored. This is largely due to the computational complexity involved when multiple traits are simultaneously considered against multiple markers if an exhaustive search strategy is adopted. In this article, we propose a computationally feasible approach to identify pairs of chromosomal regions that interact to regulate co-expression patterns of pairs of genes. Our approach is built on a bivariate model whose covariance matrix depends on the joint genotypes at the candidate loci. We also propose a filtering process to reduce the computational burden. When we applied our method to a yeast eQTL dataset profiled under both the glucose and ethanol conditions, we identified a total of 225 and 224 modules, with each module consisting of two genes and two eQTLs where the two eQTLs epistatically regulate the co-expression patterns of the two genes. We found that many of these modules have biological interpretations. Under the glucose condition, ribosome biogenesis was co-regulated with the signaling and carbohydrate catabolic processes, whereas silencing and aging related genes were co-regulated under the ethanol condition with the eQTLs containing genes involved in oxidative stress response process.
表达数量性状基因座 (eQTL) 研究在不同的生物体中产生了大量的数据。对这些数据的分析导致了许多关于表达调控的新发现和生物学见解。然而,上位性在多个基因的联合调控中的作用尚未得到探索。这主要是由于如果采用穷举搜索策略同时考虑多个性状和多个标记,涉及到的计算复杂性。在本文中,我们提出了一种计算上可行的方法来识别相互作用以调节成对基因的共表达模式的染色体区域对。我们的方法建立在一个双变量模型上,其协方差矩阵取决于候选位点的联合基因型。我们还提出了一种过滤过程来降低计算负担。当我们将我们的方法应用于在葡萄糖和乙醇条件下分别进行的酵母 eQTL 数据集时,我们总共鉴定出 225 个和 224 个模块,每个模块由两个基因和两个 eQTL 组成,其中两个 eQTL 上位性调节两个基因的共表达模式。我们发现其中许多模块具有生物学解释。在葡萄糖条件下,核糖体生物发生与信号和碳水化合物分解代谢过程共同调控,而在乙醇条件下,沉默和衰老相关基因与涉及氧化应激反应过程的基因的 eQTL 共同调控。