Transcriptional disruptions in Down syndrome: a case study in the Ts1Cje mouse cerebellum during post‐natal development
To understand the aetiology and the phenotypic severity of Down syndrome, we searched for transcriptional signatures in a substructure of the brain (cerebellum) during post‐natal development in a segmental trisomy 16 model, the Ts1Cje mouse. The goal of this study was to investigate the effects of t...
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Published in | Journal of neurochemistry Vol. 97; no. s1; pp. 104 - 109 |
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Main Authors | , , , , , , , , |
Format | Journal Article Conference Proceeding |
Language | English |
Published |
Oxford, UK
Blackwell Publishing Ltd
01.04.2006
Blackwell |
Subjects | |
Online Access | Get full text |
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Summary: | To understand the aetiology and the phenotypic severity of Down syndrome, we searched for transcriptional signatures in a substructure of the brain (cerebellum) during post‐natal development in a segmental trisomy 16 model, the Ts1Cje mouse. The goal of this study was to investigate the effects of trisomy on changes in gene expression across development time. The primary gene‐dosage effect on triplicated genes (∼1.5) was observed at birth [post‐natal day 0 (P0)], at P15 and P30. About 5% of the non‐triplicated genes were significantly differentially expressed between trisomic and control cerebellum, while 25% of the transcriptome was modified during post‐natal development of the cerebellum. Indeed, only 165, 171 and 115 genes were dysregulated in trisomic cerebellum at P0, P15 and P30, respectively. Surprisingly, there were only three genes dysregulated in development and in trisomic animals in a similar or opposite direction. These three genes (Dscr1, Son and Hmg14) were, quite unexpectedly, triplicated in the Ts1Cje model and should be candidate genes for understanding the aetiology of the phenotype observed in the cerebellum. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0022-3042 1471-4159 |
DOI: | 10.1111/j.1471-4159.2005.03624.x |