Patterns of population epigenomic diversity.
Patterns of population epigenomic diversity.
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自然表观遗传变异为表型多样性的产生提供了来源，但要了解表型变异对表型多样性的贡献，还需要进一步研究其与遗传变异的相互作用。在这里，我们报告了野生拟南芥种质的基因组、转录本和甲基组的全群体DNA测序。单胞嘧啶甲基化多态与基因无关。然而，RNA指导的DNA甲基化靶向的差异甲基化区域之间的连锁不平衡衰减率与单核苷酸多态的速率相似。对这些RNA引导的DNA甲基化区域与遗传变异的关联分析发现了数千个甲基QTL，这揭示了遗传相关甲基化变异的第一个群体估计。对整个种群中总是甲基化的转座子和基因的分析表明，由RNA指导的DNA甲基化所针对的座位在花粉和种子中被表观遗传激活，这促进了这些结构的适当发展。
Natural epigenetic variation provides a source for the generation of phenotypic diversity, but to understand its contribution to phenotypic diversity, its interaction with genetic variation requires further investigation. Here, we report population-wide DNA sequencing of genomes, transcriptomes, and methylomes of wild Arabidopsis thaliana accessions. Single cytosine methylation polymorphisms are unlinked to genotype. However, the rate of linkage disequilibrium decay amongst differentially methylated regions targeted by RNA-directed DNA methylation is similar to the rate for single nucleotide polymorphisms. Association analyses of these RNA-directed DNA methylation regions with genetic variants identified thousands of methylQTL, which revealed the first population estimate of genetically dependent methylation variation. Analysis of invariably methylated transposons and genes across this population indicates that loci targeted by RNA-directed DNA methylation are epigenetically activated in pollen and seeds, which facilitates proper development of these structures.