Simon Marissa, Bruex Angela, Kainkaryam Raghunandan M, Zheng Xiaohua, Huang Ling, Woolf Peter J, Schiefelbein John
Department of Molecular, Cellular, and Developmental Biology, University of Michigan, An Arbor, Michigan 48109.
Plant Cell. 2013 Sep;25(9):3175-85. doi: 10.1105/tpc.113.115121. Epub 2013 Sep 6.
Traditional genetic analysis relies on mutants with observable phenotypes. Mutants lacking visible abnormalities may nevertheless exhibit molecular differences useful for defining gene function. To examine this, we analyzed tissue-specific transcript profiles from Arabidopsis thaliana transcription factor gene mutants with known roles in root epidermis development, but lacking a single-gene mutant phenotype due to genetic redundancy. We discovered substantial transcriptional changes in each mutant, preferentially affecting root epidermal genes in a manner consistent with the known double mutant effects. Furthermore, comparing transcript profiles of single and double mutants, we observed remarkable variation in the sensitivity of target genes to the loss of one or both paralogous genes, including preferential effects on specific branches of the epidermal gene network, likely reflecting the pathways of paralog subfunctionalization during evolution. In addition, we analyzed the root epidermal transcriptome of the transparent testa glabra2 mutant to clarify its role in the network. These findings provide insight into the molecular basis of genetic redundancy and duplicate gene diversification at the level of a specific gene regulatory network, and they demonstrate the usefulness of tissue-specific transcript profiling to define gene function in mutants lacking informative visible changes in phenotype.
传统的遗传分析依赖于具有可观察表型的突变体。缺乏明显异常的突变体可能仍表现出有助于定义基因功能的分子差异。为了对此进行研究,我们分析了来自拟南芥转录因子基因突变体的组织特异性转录谱,这些突变体在根表皮发育中具有已知作用,但由于遗传冗余而缺乏单基因突变体表型。我们在每个突变体中发现了大量的转录变化,优先以与已知双突变效应一致的方式影响根表皮基因。此外,比较单突变体和双突变体的转录谱,我们观察到靶基因对一个或两个旁系同源基因缺失的敏感性存在显著差异,包括对表皮基因网络特定分支的优先影响,这可能反映了进化过程中旁系同源基因亚功能化的途径。此外,我们分析了透明种皮光滑2突变体的根表皮转录组,以阐明其在该网络中的作用。这些发现为特定基因调控网络水平上的遗传冗余和重复基因多样化的分子基础提供了见解,并且它们证明了组织特异性转录谱分析在定义缺乏信息丰富的可见表型变化的突变体中的基因功能方面的有用性。