The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome

被引：14
作者：
Bens, Susanne [1 ,2 ]
Kolarova, Julia [1 ,2 ]
Gillessen-Kaesbach, Gabriele [3 ]
Buiting, Karin [4 ]
Beygo, Jasmin [4 ]
Caliebe, Almuth [1 ,2 ]
Ammerpohl, Ole [1 ,2 ]
Siebert, Reiner [1 ,2 ]
机构：
[1] Univ Kiel, Inst Human Genet, Kiel, Germany
[2] Univ Hosp Schleswig Holstein, Kiel, Germany
[3] Med Univ Lubeck, Inst Humangenet Lubeck, D-23538 Lubeck, Germany
[4] Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Essen, Germany
来源：
EPIGENOMICS | 2015年 / 7卷 / 07期
关键词：
DNA methylation; IG-DMR; imprinting; MEG3; MEG8; MEG3-DMR; MEG8-DMR; Temple syndrome; MATERNAL UNIPARENTAL DISOMY; PATERNAL ISODISOMY; CLINICAL-FEATURES; GENE-CLUSTER; CHROMOSOME-14; DOMAIN; IDENTIFICATION; INDIVIDUALS; LOCUS; GTL2;
D O I：
10.2217/epi.15.73
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：1089 / 1097
页数：9
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