A genomic view on epilepsy and autism candidate genes

Epilepsy is a common complex disorder most frequently associated with psychiatric and neurological diseases. Massive parallel sequencing of individual or cohort genomes and exomes led the identification of several disease associated genes. We review here the candidate genes in epilepsy genetics with...

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Bibliographic Details
Published in:Genomics (San Diego, Calif.) Calif.), 2016-07, Vol.108 (1), p.31-36
Main Authors: Jabbari, Kamel, Nürnberg, Peter
Format: Article
Language:English
Subjects:
Autistic Disorder - genetics
Brain
Brain - metabolism
Chromatin
Epilepsy - genetics
Gene Expression Profiling
Genetic Predisposition to Disease - genetics
Genome, Human - genetics
Genomics - methods
Humans
Isochores
Isochores - genetics
Lamina
Proteome - genetics
Replication timing
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Summary:Epilepsy is a common complex disorder most frequently associated with psychiatric and neurological diseases. Massive parallel sequencing of individual or cohort genomes and exomes led the identification of several disease associated genes. We review here the candidate genes in epilepsy genetics with focus on exome and gene panel data. Together with the examination of brain expressed genes and post synaptic proteome the results show that: (1) Non-metabolic epilepsies and autism candidate genes tend to be AT-rich and (2) large transcript size and local AT-richness are characteristic features of genes involved in developmental brain disorders and synaptic functions. These results point to the preferential location of core epilepsy and autism candidate genes in late replicating, GC-poor chromosomal regions (isochores). These results indicate that the genomic alterations leading to some brain disorders are confined to responsive chromatin areas harboring brain critical genes. •The genomic alterations leading to some brain disorders are confined to responsive chromatin areas harboring brain critical genes.•The majority of autism and epilepsy core candidate transcripts are long and GC-poor.•Synaptic and brain critical genes are preferentially located in late replicating, GC-poor chromosomal regions.•GC-rich genes tend to be associated with metabolic epilepsy pathways, and are likely to be critical in astrocytes and oligodendrocytes.
ISSN:0888-7543
1089-8646
DOI:10.1016/j.ygeno.2016.01.001