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Convergence of spectrums: neuronal gene network states in autism spectrum disorder.


ABSTRACT: Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by social deficits and restrictive and/or repetitive behaviors. The breadth of ASD symptoms is paralleled by the multiplicity of genes that have been implicated in its etiology. Initial findings revealed numerous ASD risk genes that contribute to synaptic function. More recently, genomic and gene expression studies point to altered chromatin function and impaired transcriptional control as additional risk factors for ASD. The consequences of impaired transcriptional alterations in ASD involve consistent changes in synaptic gene expression and cortical neuron specification during brain development. The multiplicity of genetic and environmental factors associated with ASD risk and their convergence onto common molecular pathways in neurons point to ASD as a disorder of gene regulatory networks.

SUBMITTER: Sullivan JM 

PROVIDER: S-EPMC6888864 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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Convergence of spectrums: neuronal gene network states in autism spectrum disorder.

Sullivan Josefa M JM   De Rubeis Silvia S   Schaefer Anne A  

Current opinion in neurobiology 20190618


Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by social deficits and restrictive and/or repetitive behaviors. The breadth of ASD symptoms is paralleled by the multiplicity of genes that have been implicated in its etiology. Initial findings revealed numerous ASD risk genes that contribute to synaptic function. More recently, genomic and gene expression studies point to altered chromatin function and impaired transcriptional control as additional risk fac  ...[more]

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