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Title: Muscle transcriptome analysis of mouse models of partial trisomy and monosomy 21      
dateReleased:
12-31-2015
description:
Aneuploidies of human chromosome 21 (Down syndrome (DS) and monosomy 21 (M21)) lead to variable physiological abnormalities with constant mental retardation, locomotor deficits and altered muscle tone. To search for dosage-sensitive genes involved in DS and M21 phenotypes, we created two new mouse models carrying either tandem duplication (Ts2Yah) or a deletion (Ms3Yah) of the Stch-App interval homologous and syntenic with 21q11.2-q21.3 in humans. Here we report the complex mirror phenotypes of the trisomy and monosomy involving locomotion, muscle strength, mass and energetic balance that vary while ageing. Expression profiling of skeletal muscles revealed global changes in the expression of genes implicated in energetic metabolism, mitochondrial activity and biogenesis with down-regulation in Ts2Yah and up-regulation in Ms3Yah mice. The shift in skeletal muscle metabolism correlated with a change in mitochondrial proliferation without an alteration of the respiratory function. However ROS production from mitochondrial complex I decreased in Ms3Yah mice while membrane permeability of Ts2Yah mitochondria slightly increased. Our results clearly demonstrate the central versus peripheral impact of the variation of copy number of the Stch-App region on the locomotor activity, muscle biology and mitochondrial biogenesis in models of these aneuploidies. Total RNA isolated from gastrocnemius muscles of mice that are trisomic (Ts2Yah) and monosomic (Ms3Yah) for the Stch-App region on Mmu16 and diploid control mice
privacy:
not applicable
aggregation:
instance of dataset
ID:
E-GEOD-58463
refinement:
raw
alternateIdentifiers:
58463
keywords:
functional genomics
dateModified:
01-02-2016
availability:
available
types:
gene expression
name:
Mus musculus
ID:
A-MEXP-1175
name:
Illumina MouseWG-6 v2.0 Expression BeadChip
accessURL: https://www.ebi.ac.uk/arrayexpress/files/E-GEOD-58463/E-GEOD-58463.raw.1.zip
storedIn:
ArrayExpress
qualifier:
gzip compressed
format:
TXT
accessType:
download
authentication:
none
authorization:
none
accessURL: https://www.ebi.ac.uk/arrayexpress/files/E-GEOD-58463/E-GEOD-58463.processed.1.zip
storedIn:
ArrayExpress
qualifier:
gzip compressed
format:
TXT
accessType:
download
authentication:
none
authorization:
none
accessURL: https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE58463
storedIn:
Gene Expression Omnibus
qualifier:
not compressed
format:
HTML
accessType:
landing page
primary:
true
authentication:
none
authorization:
none
abbreviation:
EBI
homePage: http://www.ebi.ac.uk/
ID:
SCR:004727
name:
European Bioinformatics Institute
homePage: https://www.ebi.ac.uk/arrayexpress/
ID:
SCR:002964
name:
ArrayExpress
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