Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform
Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform
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DOI：
10.2217/epi-2017-0172
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发表时间：
2018-07-01
期刊：
影响因子：
3.8
通讯作者：
Nakabayashi, Kazuhiko
中科院分区：
文献类型：
--
作者：
Hernandez Mora, Jose R.;Tayama, Chiharu;Nakabayashi, Kazuhiko
目的：本研究的目的是建立一个目录的探针对应的印记差异甲基化区域（DMR）的Infinium HumanMethylationEPIC BeadChip。材料和方法：将具有低正常双亲嵌合贡献的相互单亲二倍体与正常二倍体对照一起进行EPIC BeadChip杂交。评估甲基化谱的印迹差异甲基化。使用基于基因座特异性PCR的测定验证最佳候选物。结果如下：789个CpG探针与50个已知的印迹DMR一致，467个CpG探针对应于124个新的印迹DMR候选者。验证导致在已知的印迹结构域中鉴定出几个细微的DMR以及与PTCHD3和JAKMIP 1相关的新的母体甲基化区域。结论：我们全面的善意印迹DMR探针列表将简化和促进印迹障碍个体的甲基化分析，并适用于涉及异常印迹的其他疾病，如癌症和胎儿生长。
Aim: This study aimed to establish a catalog of probes corresponding to imprinted differentially methylated regions (DMRs) on the Infinium HumanMethylationEPIC BeadChip. Materials & methods: Reciprocal uniparental diploidies with low normal biparental mosaic contribution, together with normal diploid controls, were subjected to EPIC BeadChip hybridization. The methylation profiles were assessed for imprinted differential methylation. Top candidates were validated using locus-specific PCR-based assays. Results: Seven hundred and eighty-nine CpG probes coincided with 50 known imprinted DMRs and 467 CpG probes corresponding to 124 novel imprinted DMR candidates were identified. Validation led to identification of several subtle DMRs within known imprinted domains as well as novel maternally methylated regions associated with PTCHD3 and JAKMIP1. Conclusion: Our comprehensive list of bona fide-imprinted DMR probes will simplify and facilitate methylation profiling of individuals with imprinting disorders and is applicable to other diseases in which aberrant imprinting has been implicated, such as cancer and fetal growth.