Unknown,Transcriptomics,Genomics,Proteomics

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Genome wide expression profiles in Down syndrome

ABSTRACT: Down syndrome (DS) (MIM 190685) is a complex disorder caused by the trisomy of either the entire, or a critical region of chromosome 21 (21q22.1-22.3). Despite representing the first genetic cause of mental retardation, the molecular bases of the syndrome are still largely unknown. We analyzed the genome-wide transcription profiles of lymphoblastoid cell lines (LCLs) from six DS and six euploid individuals and investigated differential gene expression and pathway deregulation associated with trisomy 21. RNA from six DS and six control LCLs was independently hybridized on the Affymetrix HU133 plus 2.0 oligonucleotide array (Affymetrix, Santa Clara, CA).The experimental design was a diseased versus control comparison. In a second approach, variability of gene expression among the DS and control group, respectively, was assessed by the analysis of the coefficient of variation (CV), calculated as the ratio between standard deviation and mean expression level for each gene among samples.

ORGANISM(S): Homo sapiens

SUBMITTER: Iris Scala 

PROVIDER: E-MTAB-1238 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome.

Granese Barbara B   Scala Iris I   Spatuzza Carmen C   Valentino Anna A   Coletta Marcella M   Vacca Rosa Anna RA   De Luca Pasquale P   Andria Generoso G  

BMC medical genomics 20130705

<h4>Background</h4>Down syndrome (DS) is a complex disorder caused by the trisomy of either the entire, or a critical region of chromosome 21 (21q22.1-22.3). Despite representing the most common cause of mental retardation, the molecular bases of the syndrome are still largely unknown.<h4>Methods</h4>To better understand the pathogenesis of DS, we analyzed the genome-wide transcription profiles of lymphoblastoid cell lines (LCLs) from six DS and six euploid individuals and investigated different  ...[more]

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