Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

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Genome wide DNA Methylation Study in Cornelia de Lange Syndrome


ABSTRACT: Differential DNA methylation was identified in CdLS, and correlates to cohesin binding as well. However, DNA methylation may only be one of several events that regulate gene expression in humans. 63 Lymphoblastoid cell lines (LCLs) from 39 CdLS probands, 2 RBS probands and 22 gender and racial matched healthy controls were tested on HumanMethylation27 DNA Analysis BeadChip (Illumina) which carries 27,578 highly informative CpG sites derived from the well-annotated NCBI CCDS database

ORGANISM(S): Homo sapiens

SUBMITTER: IAN KRANTZ 

PROVIDER: E-GEOD-18458 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications


The cohesin complex has recently been shown to be a key regulator of eukaryotic gene expression, although the mechanisms by which it exerts its effects are poorly understood. We have undertaken a genome-wide analysis of DNA methylation in cohesin-deficient cell lines from probands with Cornelia de Lange syndrome (CdLS). Heterozygous mutations in NIPBL, SMC1A and SMC3 genes account for ∼65% of individuals with CdLS. SMC1A and SMC3 are subunits of the cohesin complex that controls sister chromatid  ...[more]

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