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Neuroscience Bulletin
Published in: Neuroscience Bulletin 2/2017

Open Access 01-04-2017 | Original Article

Distinct Defects in Spine Formation or Pruning in Two Gene Duplication Mouse Models of Autism

Authors: Miao Wang, Huiping Li, Toru Takumi, Zilong Qiu, Xiu Xu, Xiang Yu, Wen-Jie Bian

Published in: Neuroscience Bulletin | Issue 2/2017

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Abstract

Autism spectrum disorder (ASD) encompasses a complex set of developmental neurological disorders, characterized by deficits in social communication and excessive repetitive behaviors. In recent years, ASD is increasingly being considered as a disease of the synapse. One main type of genetic aberration leading to ASD is gene duplication, and several mouse models have been generated mimicking these mutations. Here, we studied the effects of MECP2 duplication and human chromosome 15q11-13 duplication on synaptic development and neural circuit wiring in the mouse sensory cortices. We showed that mice carrying MECP2 duplication had specific defects in spine pruning, while the 15q11-13 duplication mouse model had impaired spine formation. Our results demonstrate that spine pathology varies significantly between autism models and that distinct aspects of neural circuit development may be targeted in different ASD mutations. Our results further underscore the importance of gene dosage in normal development and function of the brain.
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Metadata
Title
Distinct Defects in Spine Formation or Pruning in Two Gene Duplication Mouse Models of Autism
Authors
Miao Wang
Huiping Li
Toru Takumi
Zilong Qiu
Xiu Xu
Xiang Yu
Wen-Jie Bian
Publication date
01-04-2017
Publisher
Springer Singapore
Published in
Neuroscience Bulletin / Issue 2/2017
Print ISSN: 1673-7067
Electronic ISSN: 1995-8218
DOI
https://doi.org/10.1007/s12264-017-0111-8

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