The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome
The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome
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DOI：
10.2217/epi.15.73
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发表时间：
2015-01-01
期刊：
影响因子：
3.8
通讯作者：
Siebert, Reiner
中科院分区：
文献类型：
--
作者：
Bens, Susanne;Kolarova, Julia;Siebert, Reiner
目的：研究Temple综合征患者14q32印迹簇中新发现的MEG8差异甲基化区域(DMR)的DNA甲基化水平。患者与方法：我们对3例Temple综合征患者进行了Infinium Human Megylation450 BeadChips、位点特异性亚硫酸盐焦磷酸测序、甲基化特异性MLPA和微卫星分析。MEG8-DMR的TAG-CpG是使用InfiniumHumanMylation450珠芯片进行研究的。结果：在所有3例患者中，观察到MEG8-DMR的DNA高甲基化以及IG-DMR和MEG3-DMR的DNA低甲基化。结论：根据观察到的MEG8-DMR DNA甲基化和以前发表的数据，我们得出结论，MEG3-和MEG8-DMR的DNA甲基化在功能上依赖于IG-DMR的DNA甲基化模式。据预测，在坦普尔综合征患者中，观察到的表观突变组合与MEG3和MEG8的双等位基因表达有关。
Aim: To investigate the DNA-methylation levels in the newly described MEG8 differentially methylated region (DMR) in the imprinted cluster in 14q32 in patients with Temple syndrome. Patients & methods: We included three patients with Temple syndrome which were studied by Infinium HumanMethylation450 BeadChips, locus-specific bisulfite-pyrosequencing, methylation-specific-MLPA and microsatellite analyses. The tag-CpG of the MEG8-DMR was investigated using the Infinium HumanMethylation450 BeadChip. Results: In all three patients, the identical pattern of DNA-hypermethylation of the MEG8-DMR was observed along with DNA-hypomethylation of the IG-DMR and MEG3-DMR. Conclusion: Based on the observed MEG8-DMR DNA-hypermethylation and previously published data, we conclude that DNA-methylation of the MEG3- and MEG8-DMR is functionally dependent on the DNA-methylation pattern of the IG-DMR. The observed combination of epimutations is predicted to be associated with bi-allelic MEG3 and MEG8 expression in individuals with Temple syndrome.