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基因共表达网络连通性是选择性约束的一个重要决定因素。

Gene co-expression network connectivity is an important determinant of selective constraint.

作者信息

Mähler Niklas, Wang Jing, Terebieniec Barbara K, Ingvarsson Pär K, Street Nathaniel R, Hvidsten Torgeir R

机构信息

Department of Chemistry, Biotechnology and Food Science, Norwegian University of Life Sciences, Ås, Norway.

Umeå Plant Science Centre, Department of Plant Physiology, Umeå University, Umeå, Sweden.

出版信息

PLoS Genet. 2017 Apr 13;13(4):e1006402. doi: 10.1371/journal.pgen.1006402. eCollection 2017 Apr.

Abstract

While several studies have investigated general properties of the genetic architecture of natural variation in gene expression, few of these have considered natural, outbreeding populations. In parallel, systems biology has established that a general feature of biological networks is that they are scale-free, rendering them buffered against random mutations. To date, few studies have attempted to examine the relationship between the selective processes acting to maintain natural variation of gene expression and the associated co-expression network structure. Here we utilised RNA-Sequencing to assay gene expression in winter buds undergoing bud flush in a natural population of Populus tremula, an outbreeding forest tree species. We performed expression Quantitative Trait Locus (eQTL) mapping and identified 164,290 significant eQTLs associating 6,241 unique genes (eGenes) with 147,419 unique SNPs (eSNPs). We found approximately four times as many local as distant eQTLs, with local eQTLs having significantly higher effect sizes. eQTLs were primarily located in regulatory regions of genes (UTRs or flanking regions), regardless of whether they were local or distant. We used the gene expression data to infer a co-expression network and investigated the relationship between network topology, the genetic architecture of gene expression and signatures of selection. Within the co-expression network, eGenes were underrepresented in network module cores (hubs) and overrepresented in the periphery of the network, with a negative correlation between eQTL effect size and network connectivity. We additionally found that module core genes have experienced stronger selective constraint on coding and non-coding sequence, with connectivity associated with signatures of selection. Our integrated genetics and genomics results suggest that purifying selection is the primary mechanism underlying the genetic architecture of natural variation in gene expression assayed in flushing leaf buds of P. tremula and that connectivity within the co-expression network is linked to the strength of purifying selection.

摘要

虽然有多项研究调查了基因表达自然变异的遗传结构的一般特性,但其中很少有研究考虑自然杂交种群。与此同时,系统生物学已经证实,生物网络的一个普遍特征是它们无标度,这使得它们能够抵御随机突变。迄今为止,很少有研究试图探讨维持基因表达自然变异的选择过程与相关共表达网络结构之间的关系。在这里,我们利用RNA测序来分析欧洲山杨(一种杂交林木物种)自然种群中正在进行芽萌发的冬芽中的基因表达。我们进行了表达定量性状位点(eQTL)定位,确定了164,290个显著的eQTL,将6,241个独特基因(eGenes)与147,419个独特单核苷酸多态性(eSNPs)相关联。我们发现本地eQTL的数量大约是远距离eQTL的四倍,本地eQTL的效应大小显著更高。无论eQTL是本地的还是远距离的,它们主要位于基因的调控区域(非翻译区或侧翼区域)。我们利用基因表达数据推断共表达网络,并研究了网络拓扑结构、基因表达的遗传结构和选择特征之间的关系。在共表达网络中,eGenes在网络模块核心(枢纽)中的代表性不足,而在网络外围的代表性过高,eQTL效应大小与网络连通性之间呈负相关。我们还发现,模块核心基因在编码和非编码序列上受到了更强的选择约束,连通性与选择特征相关。我们整合的遗传学和基因组学结果表明,纯化选择是欧洲山杨萌发叶芽中基因表达自然变异遗传结构的主要潜在机制,并且共表达网络中的连通性与纯化选择的强度相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a10/5407845/2044f3eeca36/pgen.1006402.g001.jpg

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