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5-甲基胞嘧啶DNA糖基化酶ROS1可防止拟南芥胚乳中父本基因组的超甲基化。

The 5-methylcytosine DNA glycosylase ROS1 prevents paternal genome hypermethylation in Arabidopsis endosperm.

作者信息

Hemenway Elizabeth A, Gehring Mary

机构信息

Whitehead Institute for Biomedical Research, Cambridge, MA, 02142, USA.

Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, 02139, USA.

出版信息

Genome Biol. 2025 Sep 18;26(1):286. doi: 10.1186/s13059-025-03745-w.

Abstract

BACKGROUND

DNA methylation patterning is a consequence of opposing activities of DNA methyltransferases and DNA demethylases. In many plant and animal species, reproduction is a period of significant epigenome lability. In flowering plants, two distinct female gametes, the egg cell and the central cell, are fertilized to produce the embryo and the endosperm of the seed. The endosperm is an unusual tissue, exemplified by triploidy and reduced DNA methylation. In Arabidopsis thaliana, a 5-methylcytosine DNA glycosylase, DME, demethylates regions of the central cell genome, leading to methylation differences between maternally- and paternally-inherited endosperm genomes after fertilization. Expression of DME in the central cell is required for gene imprinting, or parent-of-origin specific gene expression, in endosperm. DME is part of a four member gene family in Arabidopsis that includes ROS1, DML2, and DML3. It is unknown whether any of the other DNA glycosylases are required for endosperm methylation patterning.

RESULTS

Using whole-genome methylation profiling, we identify ROS1 target regions in the endosperm. We show that ROS1 prevents hypermethylation of paternally-inherited alleles in the endosperm at regions that lack maternal or paternal allele methylation in wild-type endosperm. Additionally, we demonstrate that at many ROS1 target regions the maternal alleles are demethylated by DME.

CONCLUSIONS

ROS1 promotes epigenetic symmetry between parental genomes in the endosperm by preventing CG methylation gain on the paternal genome. We conclude that ROS1 and DME act in a parent-of-origin-specific manner at shared endosperm targets, and consider possible implications for the evolution of imprinting mechanisms.

摘要

背景

DNA甲基化模式是DNA甲基转移酶和DNA去甲基化酶相反作用的结果。在许多动植物物种中,繁殖是表观基因组不稳定的时期。在开花植物中,两种不同的雌配子,即卵细胞和中央细胞,受精后产生种子的胚和胚乳。胚乳是一种特殊的组织,其特点是三倍体和DNA甲基化减少。在拟南芥中,一种5-甲基胞嘧啶DNA糖基化酶DME使中央细胞基因组区域去甲基化,导致受精后母本和父本遗传的胚乳基因组之间的甲基化差异。中央细胞中DME的表达是胚乳中基因印记或亲本特异性基因表达所必需的。DME是拟南芥中一个由四个成员组成的基因家族的一部分,该家族包括ROS1、DML2和DML3。尚不清楚其他任何DNA糖基化酶是否是胚乳甲基化模式所必需的。

结果

使用全基因组甲基化分析,我们在胚乳中鉴定出ROS1靶区域。我们表明,在野生型胚乳中缺乏母本或父本等位基因甲基化的区域,ROS1可防止胚乳中父本遗传等位基因的超甲基化。此外,我们证明,在许多ROS1靶区域,母本等位基因被DME去甲基化。

结论

ROS1通过防止父本基因组上CG甲基化增加,促进胚乳中亲本基因组之间的表观遗传对称性。我们得出结论,ROS1和DME在共同的胚乳靶标上以亲本特异性方式起作用,并考虑了对印记机制进化的可能影响。

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