The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome. (October 2015)

• Record Type: Journal Article
• Authors: Bens, Susanne; Kolarova, Julia; Gillessen-Kaesbach, Gabriele; Buiting, Karin; Beygo, Jasmin; Caliebe, Almuth; Ammerpohl, Ole; Siebert, Reiner
• Is Part Of: Epigenomics. Volume 7:Number 7(2015)
• Page Start: 1089
• Page End: 1097
• Publication Date: 2015-10
• Subjects: DNA methylation -- IG-DMR -- imprinting -- MEG3 -- MEG8 -- MEG3-DMR -- MEG8-DMR -- Temple syndrome; Epigenesis -- Periodicals; Genomics -- Periodicals; Chromatin -- Periodicals; DNA -- Periodicals; 572.87
• DOI: 10.2217/epi.15.73
• Languages: English
• ISSNs: 1750-1911

Abstract

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.