Hing Benjamin, Ramos Enrique, Braun Patricia, McKane Melissa, Jancic Dubravka, Tamashiro Kellie L K, Lee Richard S, Michaelson Jacob J, Druley Todd E, Potash James B
a Department of Psychiatry; University of Iowa Carver College of Medicine ; Iowa City , IA , USA.
Epigenetics. 2015;10(7):581-96. doi: 10.1080/15592294.2015.1045179.
Methyl-Seq was recently developed as a targeted approach to assess DNA methylation (DNAm) at a genome-wide level in human. We adapted it for mouse and sought to examine DNAm differences across liver and 2 brain regions: cortex and hippocampus. A custom hybridization array was designed to isolate 99 Mb of CpG islands, shores, shelves, and regulatory elements in the mouse genome. This was followed by bisulfite conversion and sequencing on the Illumina HiSeq2000. The majority of differentially methylated cytosines (DMCs) were present at greater than expected frequency in introns, intergenic regions, near CpG islands, and transcriptional enhancers. Liver-specific enhancers were observed to be methylated in cortex, while cortex specific enhancers were methylated in the liver. Interestingly, commonly shared enhancers were differentially methylated between the liver and cortex. Gene ontology and pathway analysis showed that genes that were hypomethylated in the cortex and hippocampus were enriched for neuronal components and neuronal function. In contrast, genes that were hypomethylated in the liver were enriched for cellular components important for liver function. Bisulfite-pyrosequencing validation of 75 DMCs from 19 different loci showed a correlation of r = 0.87 with Methyl-Seq data. We also identified genes involved in neurodevelopment that were not previously reported to be differentially methylated across brain regions. This platform constitutes a valuable tool for future genome-wide studies involving mouse models of disease.
甲基化测序(Methyl-Seq)是最近开发的一种靶向方法,用于在全基因组水平评估人类的DNA甲基化(DNAm)。我们将其应用于小鼠,并试图研究肝脏与两个脑区(皮层和海马体)之间的DNAm差异。设计了一种定制的杂交阵列,以分离小鼠基因组中99 Mb的CpG岛、岸、架和调控元件。随后进行亚硫酸氢盐转化,并在Illumina HiSeq2000上进行测序。大多数差异甲基化胞嘧啶(DMC)在基因内区、基因间区域、CpG岛附近和转录增强子中出现的频率高于预期。观察到肝脏特异性增强子在皮层中甲基化,而皮层特异性增强子在肝脏中甲基化。有趣的是,肝脏和皮层之间共同的增强子存在差异甲基化。基因本体论和通路分析表明,在皮层和海马体中低甲基化的基因富含神经元成分和神经元功能。相比之下,在肝脏中低甲基化的基因富含对肝功能重要的细胞成分。对来自19个不同位点的75个DMC进行亚硫酸氢盐焦磷酸测序验证,结果显示与甲基化测序数据的相关性r = 0.87。我们还鉴定出了参与神经发育的基因,这些基因以前未被报道在不同脑区存在差异甲基化。该平台为未来涉及疾病小鼠模型的全基因组研究提供了一个有价值的工具。