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Series GSE35665 Query DataSets for GSE35665
Status Public on Feb 10, 2012
Title Genome-wide expression analysis in Down syndrome: insight into immunodeficiency
Organism Homo sapiens
Experiment type Expression profiling by array
Summary Down syndrome (DS) is caused by triplication of Human chromosome 21 (Hsa21) and associated with an array of deleterious phenotypes, including mental retardation, heart defects and immunodeficiency. Genome-wide expression patterns of uncultured peripheral blood cells are useful to understanding of DS-associated immune dysfunction. We used a Human Exon microarray to characterize gene expression in uncultured peripheral blood cells derived from DS individuals and age-matched controls from two age groups: neonate (N) and child (C). A total of 174 transcript clusters (gene-level) with eight located on Hsa21 in N group and 383 transcript clusters including 56 on Hsa21 in C group were significantly dysregulated in DS individuals. Microarray data were validated by quantitative polymerase chain reaction. Functional analysis revealed that the dysregulated genes in DS were significantly enriched in two and six KEGG pathways in N and C group, respectively. These pathways included leukocyte trans-endothelial migration, B cell receptor signaling pathway and primary immunodeficiency, etc., which causally implicated dysfunctional immunity in DS. Our results provided a comprehensive picture of gene expression patterns in DS at the two developmental stages and pointed towards candidate genes and molecular pathways potentially associated with the immune dysfunction in DS.
 
Overall design All 37 samples, including 15 DS patients and 22 control individuals were analysized and divided into two age-matched groups: N group (5 DS versus 7 control individuals, age: 3 days to 38 days) and C group (10 DS versus 15 control individuals, age: 1 year to 13 years). N group includes DS (D11-D15) and Control (C16-C22), and C group includes DS (D1-D10) and Control (C1-C15).
 
Contributor(s) Li C, Jin L, Bai Y, Chen Q, Fu L, Yang M, Xiao H, Zhao G, Wang S
Citation(s) 23155455
Submission date Feb 09, 2012
Last update date Feb 18, 2019
Contact name Chong Li
E-mail(s) lichong@chgc.sh.cn
Phone +86-21-50801919
Fax +86-21-50801922
Organization name Chineses National Human Genome Center at Shanghai
Street address Bldg.1,No.250 Bi Bo Rd.,Shanghai
City Shanghai
ZIP/Postal code 201203
Country China
 
Platforms (1)
GPL5175 [HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [transcript (gene) version]
Samples (37)
GSM873212 peripheral blood mononuclear cell(PBMC)_child_Down syndrome_rep1
GSM873213 peripheral blood mononuclear cell(PBMC)_child_Down syndrome_rep2
GSM873214 peripheral blood mononuclear cell(PBMC)_child_Down syndrome_rep3
Relations
BioProject PRJNA152435

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE35665_RAW.tar 843.5 Mb (http)(custom) TAR (of CEL)
Processed data included within Sample table
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