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PLoS Biol. 2016 Sep 29;14(9):e1002558. doi: 10.1371/journal.pbio.1002558. eCollection 2016 Sep.

Disruption of an Evolutionarily Novel Synaptic Expression Pattern in Autism.

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CAS Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai, China.
Big Data Decision Institute, Jinan University, Guangzhou, China.
Shanghai Key Laboratory of Forensic Medicine, Institute of Forensic Sciences, Ministry of Justice, Shanghai, China.
Department of Biological Sciences, Middle East Technical University, Ankara, Turkey.
Department of Psychiatry and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
MAEBIOS-TM, Alamogordo, New Mexico, United States of America.
Department of Anthropology, The George Washington University, Washington, District of Columbia, United States of America.
Fishberg Department of Neuroscience and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
Institute of Neuroscience, Chinese Academy of Sciences, Shanghai, China.
Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Skolkovo Institute for Science and Technology, Skolkovo, Russia.


Cognitive defects in autism spectrum disorder (ASD) include socialization and communication: key behavioral capacities that separate humans from other species. Here, we analyze gene expression in the prefrontal cortex of 63 autism patients and control individuals, as well as 62 chimpanzees and macaques, from natal to adult age. We show that among all aberrant expression changes seen in ASD brains, a single aberrant expression pattern overrepresented in genes involved synaptic-related pathways is enriched in nucleotide variants linked to autism. Furthermore, only this pattern contains an excess of developmental expression features unique to humans, thus resulting in the disruption of human-specific developmental programs in autism. Several members of the early growth response (EGR) transcription factor family can be implicated in regulation of this aberrant developmental change. Our study draws a connection between the genetic risk architecture of autism and molecular features of cortical development unique to humans.

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