Section for Genetics and Evolutionary Biology, Department of Biosciences, University of Oslo, 0316 Oslo, Norway.
College of Natural Sciences and Mathematics, Shepherd University, Shepherdstown, West Virginia 25443-5000.
Plant Physiol. 2019 Jul;180(3):1498-1519. doi: 10.1104/pp.19.00320. Epub 2019 May 7.
Genomic imprinting is an epigenetic phenomenon established in the gametes prior to fertilization that causes differential expression of parental alleles, mainly in the endosperm of flowering plants. The overlap between previously identified panels of imprinted genes is limited. To investigate imprinting, we used high-resolution sequencing data acquired with sequence-capture technology. We present a bioinformatics pipeline to assay parent-of-origin allele-specific expression and report more than 300 loci with parental expression bias in Arabidopsis (). In most cases, the level of expression from maternal and paternal alleles was not binary, instead supporting a differential dosage hypothesis for the evolution of imprinting in plants. To address imprinting regulation, we systematically employed mutations in regulative epigenetic pathways suggested to be major players in the process. We established the mechanistic mode of imprinting for more than 50 loci regulated by DNA methylation and Polycomb-dependent histone methylation. However, the imprinting patterns of most genes were not affected by these mechanisms. To this end, we also demonstrated that the RNA-directed DNA methylation pathway alone does not substantially influence imprinting patterns, suggesting that more complex epigenetic pathways regulate most of the identified imprinted genes.
基因组印记是一种在受精前的配子中建立的表观遗传现象,导致亲本等位基因的差异表达,主要在开花植物的胚乳中。先前鉴定的印记基因面板之间的重叠是有限的。为了研究印记,我们使用了序列捕获技术获得的高分辨率测序数据。我们提出了一个生物信息学管道来检测亲本等位基因特异性表达,并在拟南芥中报告了 300 多个具有亲本表达偏倚的基因位点()。在大多数情况下,来自母本和父本等位基因的表达水平不是二进制的,而是支持植物中印记进化的差异剂量假说。为了解决印记调控问题,我们系统地研究了调控性表观遗传途径的突变,这些途径被认为是该过程的主要参与者。我们确定了 50 多个受 DNA 甲基化和 Polycomb 依赖性组蛋白甲基化调控的基因位点的印记调控机制。然而,大多数基因的印记模式不受这些机制的影响。为此,我们还证明了单独的 RNA 指导的 DNA 甲基化途径不会显著影响印记模式,这表明更复杂的表观遗传途径调控着大多数鉴定的印记基因。