Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism

E Ben-David and S Shifman, Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism, doi:10.1038/mp.2012.148

Here we show that upon combing the evidence from the different studies and integrating it with gene expression data from the developing human brain, a large group of genes emerges that is involved in regulation of expression during prenatal brain development. This suggests a prominent role in ASD for the genes involved in transcription regulation during brain development, specifically chromatin regulators.

While it has been proposed that the origins of ASD are at the synapse, our meta-analysis of de novo mutations shows that many of the recently identified mutations are in genes that are involved in transcriptional regulation, specifically chromatin-related proteins, which are active during brain development.

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