State Key Laboratory of Crop Genetics and Germplasm Enhancement, Nanjing Agricultural University, 1 Weigang Road, Nanjing, 210095, China.
Department of Molecular Biosciences, Institute for Cellular and Molecular Biology and Center for Computational Biology and Bioinformatics, The University of Texas at Austin, Austin, TX, 78712, USA.
New Phytol. 2017 Oct;216(2):373-387. doi: 10.1111/nph.14510. Epub 2017 Mar 13.
Genetic imprinting refers to the unequal expression of paternal and maternal alleles of a gene in sexually reproducing organisms, including mammals and flowering plants. Although many imprinted genes have been identified in plants, the functions of these imprinted genes have remained largely uninvestigated. We report genome-wide analysis of gene expression, DNA methylation and small RNAs in the rice endosperm and functional tests of five imprinted genes during seed development using Clustered Regularly Interspaced Short Palindromic Repeats/CRISPR-associated gene9 (CRISPR/Cas9) gene editing technology. In the rice endosperm, we identified 162 maternally expressed genes (MEGs) and 95 paternally expressed genes (PEGs), which were associated with miniature inverted-repeat transposable elements, imprinted differentially methylated loci and some 21-22 small interfering RNAs (siRNAs) and long noncoding RNAs (lncRNAs). Remarkably, one-third of MEGs and nearly one-half of PEGs were associated with grain yield quantitative trait loci. Most MEGs and some PEGs were expressed specifically in the endosperm. Disruption of two MEGs increased the amount of small starch granules and reduced grain and embryo size, whereas mutation of three PEGs reduced starch content and seed fertility. Our data indicate that both MEGs and PEGs in rice regulate nutrient metabolism and endosperm development, which optimize seed development and offspring fitness to facilitate parental-offspring coadaptation. These imprinted genes and mechanisms could be used to improve the grain yield of rice and other cereal crops.
遗传印迹是指在有性繁殖生物中,包括哺乳动物和开花植物,父本和母本等位基因的不均等表达。尽管在植物中已经鉴定出许多印迹基因,但这些印迹基因的功能在很大程度上仍未得到研究。我们报告了在水稻胚乳中进行的全基因组基因表达、DNA 甲基化和小 RNA 分析,以及使用 Clustered Regularly Interspaced Short Palindromic Repeats/CRISPR-associated 9 基因(CRISPR/Cas9)基因编辑技术在种子发育过程中对五个印迹基因的功能测试。在水稻胚乳中,我们鉴定出 162 个母源表达基因(MEGs)和 95 个父源表达基因(PEGs),它们与微型反向重复转座元件、印迹差异甲基化位点和一些 21-22 个小干扰 RNA(siRNA)和长非编码 RNA(lncRNA)相关。值得注意的是,三分之一的 MEGs 和近一半的 PEGs与粒产量数量性状位点相关。大多数 MEGs 和一些 PEGs在胚乳中特异性表达。两个 MEGs 的破坏增加了小淀粉粒的数量,并减少了籽粒和胚的大小,而三个 PEGs 的突变降低了淀粉含量和种子育性。我们的数据表明,水稻中的 MEGs 和 PEGs 都调节营养代谢和胚乳发育,从而优化种子发育和后代适应性,促进亲代-后代的共同适应。这些印迹基因和机制可用于提高水稻和其他谷类作物的产量。