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Constitutional Trisomy 8 Mosaicism as a Model for Epigenetic Studies of Aneuploidy

ABSTRACT: This SuperSeries is composed of the SubSeries listed below.

ORGANISM(S): synthetic construct Homo sapiens

PROVIDER: GSE40321 | GEO | 2012/12/01

SECONDARY ACCESSION(S): PRJNA173492

REPOSITORIES: GEO

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Constitutional Trisomy 8 Mosaicism as a Model for Epigenetic Studies of Aneuploidy

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2012-12-01 | E-GEOD-40321 | biostudies-arrayexpress

Constitutional trisomy 8 mosaicism as a model for epigenetic studies of aneuploidy.

Project description:BACKGROUND: To investigate epigenetic patterns associated with aneuploidy we used constitutional trisomy 8 mosaicism (CT8M) as a model, enabling analyses of single cell clones, harboring either trisomy or disomy 8, from the same patient; this circumvents any bias introduced by using cells from unrelated, healthy individuals as controls. We profiled gene and miRNA expression as well as genome-wide and promoter specific DNA methylation and hydroxymethylation patterns in trisomic and disomic fibroblasts, using microarrays and methylated DNA immunoprecipitation. RESULTS: Trisomy 8-positive fibroblasts displayed a characteristic expression and methylation phenotype distinct from disomic fibroblasts, with the majority (65%) of chromosome 8 genes in the trisomic cells being overexpressed. However, 69% of all deregulated genes and non-coding RNAs were not located on this chromosome. Pathway analysis of the deregulated genes revealed that cancer, genetic disorder, and hematopoiesis were top ranked. The trisomy 8-positive cells displayed depletion of 5-hydroxymethylcytosine and global hypomethylation of gene-poor regions on chromosome 8, thus partly mimicking the inactivated X chromosome in females. CONCLUSIONS: Trisomy 8 affects genes situated also on other chromosomes which, in cooperation with the observed chromosome 8 gene dosage effect, has an impact on the clinical features of CT8M, as demonstrated by the pathway analysis revealing key features that might explain the increased incidence of hematologic malignancies in CT8M patients. Furthermore, we hypothesize that the general depletion of hydroxymethylation and global hypomethylation of chromosome 8 may be unrelated to gene expression regulation, instead being associated with a general mechanism of chromatin processing and compartmentalization of additional chromosomes.

| S-EPMC3704342 | biostudies-literature

Constitutional Trisomy 8 Mosaicism as a Model for Epigenetic Studies of Aneuploidy (microRNA)

Project description:To increase our understanding of epigenetic patterns associated with aneuploidy we used constitutional trisomy 8 mosaicism as a model, enabling analyses of single cell clones, harboring either trisomy or disomy 8, from the same patient. We profiled gene and miRNA expression as well as genome-wide and promoter specific DNA methylation and hydroxymethylation patterns in trisomic and disomic fibroblasts, using microarrays and methylated DNA immunoprecipitation.

2012-12-01 | GSE40319 | GEO

Constitutional Trisomy 8 Mosaicism as a Model for Epigenetic Studies of Aneuploidy (microRNA)

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Constitutional Trisomy 8 Mosaicism as a Model for Epigenetic Studies of Aneuploidy (DNA methylation)

2012-12-01 | GSE40317 | GEO

Constitutional Trisomy 8 Mosaicism as a Model for Epigenetic Studies of Aneuploidy (gene expression)

2012-12-01 | GSE40320 | GEO

Constitutional Trisomy 8 Mosaicism as a Model for Epigenetic Studies of Aneuploidy (gene expression)

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Constitutional Trisomy 8 Mosaicism as a Model for Epigenetic Studies of Aneuploidy (DNA methylation)

2012-12-01 | E-GEOD-40317 | biostudies-arrayexpress

Primary constitutional MLH1 epimutations: a focal epigenetic event