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Omics score: 3

Epigenetic alterations of a DNMT3B-mutant ICF patient at base-pair resolution

ABSTRACT: The immunodeficiency, centromere instability and facial anomalies (ICF) syndrome is associated with mutation of the DNA methyl-transferase DNMT3B, resulting in a reduction of enzyme activity. Aberrant expression of immune system genes and hypomethylation of pericentromeric regions accompanied by chromosomal instability were determined as alterations driving the disease phenotype. However, so far only technologies capable of analyzing single loci were applied to determine epigenetic alterations in ICF patients. In the current study, we performed whole-genome bisulphite sequencing to assess alteration in DNA methylation at base-pair resolution. Whole-genome bisulphite sequencing was performed to assess alteration in DNA methylation of one ICF patient and one healthy control sample at base-pair resolution.

ORGANISM(S): Homo Sapiens

SUBMITTER: Holger Heyn Manel Esteller Antonio Gómez

PROVIDER: E-GEOD-37578 | ArrayExpress | 2012-04-25

SECONDARY ACCESSION(S): SRP012499GSE37578PRJNA162293

REPOSITORIES: GEO, ArrayExpress, ENA

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			Action	DRS
	E-GEOD-37578.README.txt	Txt
	E-GEOD-37578.idf.txt	Idf
	E-GEOD-37578.processed.2.zip	Processed
	E-GEOD-37578.processed.3.zip	Processed
	E-GEOD-37578.sdrf.txt	Txt

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