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

Susanne Bens; Julia Kolarova; Gabriele Gillessen-Kaesbach; Karin Buiting; Jasmin Beygo; Almuth Caliebe; Ole Ammerpohl; Reiner Siebert

doi:10.2217/epi.15.73

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

Susanne Bens^*, Julia Kolarova, Gabriele Gillessen-Kaesbach, Karin Buiting, Jasmin Beygo, Almuth Caliebe, Ole Ammerpohl, Reiner Siebert

^*Corresponding author for this work

Institute of Human Genetics

13 Citations (Scopus)

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.

Original language	English
Journal	Epigenomics
Volume	7
Issue number	7
Pages (from-to)	1089-1097
Number of pages	9
ISSN	1750-1911
DOIs	https://doi.org/10.2217/epi.15.73
Publication status	Published - 10.2015

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title = "The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome",

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.",

author = "Susanne Bens and Julia Kolarova and Gabriele Gillessen-Kaesbach and Karin Buiting and Jasmin Beygo and Almuth Caliebe and Ole Ammerpohl and Reiner Siebert",

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T1 - The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome

AU - Bens, Susanne

AU - Kolarova, Julia

AU - Gillessen-Kaesbach, Gabriele

AU - Buiting, Karin

AU - Beygo, Jasmin

AU - Caliebe, Almuth

AU - Ammerpohl, Ole

AU - Siebert, Reiner

PY - 2015/10

Y1 - 2015/10

N2 - 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.

AB - 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.

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SN - 1750-1911

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

Abstract

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