The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome.
Epigenomics
; 7(7): 1089-97, 2015 Oct.
Article
in En
| MEDLINE
| ID: mdl-26541061
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosomes, Human, Pair 14
/
Developmental Disabilities
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Uniparental Disomy
/
Epigenesis, Genetic
/
RNA Isoforms
/
RNA, Long Noncoding
Limits:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
En
Journal:
Epigenomics
Year:
2015
Document type:
Article
Affiliation country:
Alemania