Sanders Stephan J
Department of Psychiatry, University of California, San Francisco, San Francisco, CA 94158, USA.
Curr Opin Genet Dev. 2015 Aug;33:80-92. doi: 10.1016/j.gde.2015.10.002. Epub 2015 Nov 9.
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.
在确定自闭症谱系障碍（ASD）潜在基因方面的迅速进展为对其潜在神经生物学的首轮分析提供了基础。本综述描述了这些多样分析中的共识，突出了两组不同的基因：1）调节染色质和转录的基因，尤其是在胎儿中期发育期间的皮质投射神经元和纹状体中等棘状神经元中；以及2）参与突触发育和功能的基因，尤其是在婴儿期和幼儿期，并在死后的ASD大脑中差异表达。这两组基因也是ASD基因CHD8和FMRP的调控靶点。这些是代表通往ASD表型的两条独立路径还是共同路径的两个组成部分，仍有待观察。
