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Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis.


ABSTRACT:

Background

Fragile X syndrome and tuberous sclerosis are genetic syndromes that both have a high rate of comorbidity with autism spectrum disorder (ASD). Several lines of evidence suggest that these two monogenic disorders may converge at a molecular level through the dysfunction of activity-dependent synaptic plasticity.

Methods

To explore the characteristics of transcriptomic changes in these monogenic disorders, we profiled genome-wide gene expression levels in cerebellum and blood from murine models of fragile X syndrome and tuberous sclerosis.

Results

Differentially expressed genes and enriched pathways were distinct for the two murine models examined, with the exception of immune response-related pathways. In the cerebellum of the Fmr1 knockout (Fmr1-KO) model,

SUBMITTER: Kong SW 

PROVIDER: S-EPMC3940253 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature