First glimpses of the neurobiology of autism spectrum disorder

被引:60
作者
Sanders, Stephan J. [1 ]
机构
[1] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA 94158 USA
关键词
COPY-NUMBER VARIATION; DE-NOVO MUTATIONS; BRAIN-DEVELOPMENT; ANALYSIS REVEALS; PROTEIN NETWORK; SYNDROME REGION; FRAGILE-X; GENES; MICE; RISK;
D O I
10.1016/j.gde.2015.10.002
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Rapid progress in identifying the genes underlying autism spectrum disorder (ASD) has provided the substrate for a first wave of analyses into the underlying neurobiology. This review describes the consensus across these diverse analyses, highlighting two distinct sets of genes: 1) Genes that regulate chromatin and transcription, especially in cortical projection neurons and striatal medium spiny neurons during mid-fetal development; and 2) Genes involved in synapse development and function, especially during infancy and early childhood, and differentially expressed in the post mortem ASD brain. Both gene sets are also regulatory targets of the ASD genes CHD8 and FMRP. It remains to be seen whether these represent two independent paths to the ASD phenotype or two components of a common path.
引用
收藏
页码:80 / 92
页数:13
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