Disruption of an Evolutionarily Novel Synaptic Expression Pattern in Autism

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Date

2016-09-01

Author

Liu, Xiling
Han, Dingding
Somel, Mehmet
Jiang, Xi
Hui, Haiyang
Guijarro, Patricia
Zhang, Ning
Mitchell, Amanda
Halene, Tobias
Ely, John J.
Sherwood, Chet C.
Hof, Patrick R.
Qiu, Zilong
Paeaebo, Svante
Akbarian, Schahram
Khaitovich, Philipp

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This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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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.

Subject Keywords

HIGH-FUNCTIONING AUTISM, TRANSCRIPTION FACTOR, SPECTRUM DISORDERS, PREFRONTAL CORTEX, RETT-SYNDROME, BRAIN, GROWTH, GENE, CHILDREN, LIFE

URI

https://hdl.handle.net/11511/46843

Journal

PLOS BIOLOGY

DOI

https://doi.org/10.1371/journal.pbio.1002558

Collections

Department of Biology, Article

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Citation Formats

X. Liu et al., “Disruption of an Evolutionarily Novel Synaptic Expression Pattern in Autism,” PLOS BIOLOGY, pp. 0–0, 2016, Accessed: 00, 2020. [Online]. Available: https://hdl.handle.net/11511/46843.