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自闭症易感性基因与人类大脑的转录景观。

Autism susceptibility genes and the transcriptional landscape of the human brain.

机构信息

School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, Australia.

出版信息

Int Rev Neurobiol. 2013;113:303-18. doi: 10.1016/B978-0-12-418700-9.00010-1.

Abstract

Autism is the most severe end of a spectrum of neurodevelopmental conditions, autism spectrum disorders (ASD). ASD are genetically heterogeneous, and hundreds of genes have been implicated in the etiology of the disease. Here, we discuss the contribution of brain transcriptome studies in advancing our understanding of the genetic mechanisms of ASD and review recent work characterizing the spatial and temporal variation of the human brain transcriptome, with a focus on the relevance of these data to autism susceptibility genes.

摘要

自闭症是神经发育障碍(ASD)谱中最严重的一种。ASD 在遗传上具有异质性,有数百个基因被牵连到疾病的病因中。在这里,我们讨论了大脑转录组研究在推进我们对 ASD 遗传机制的理解方面的贡献,并回顾了最近描述人类大脑转录组时空变化的工作,重点是这些数据与自闭症易感性基因的相关性。

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