Muscle transcriptome analysis of mouse models of partial trisomy and monosomy 21

ABSTRACT: 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-regulatio

ORGANISM(S): Mus musculus

SUBMITTER: Veronique BRAULT 

PROVIDER: E-GEOD-58463 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress