综合系统分析揭示了自闭症谱系障碍背后的分子网络。
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
作者信息
Li Jingjing, Shi Minyi, Ma Zhihai, Zhao Shuchun, Euskirchen Ghia, Ziskin Jennifer, Urban Alexander, Hallmayer Joachim, Snyder Michael
机构信息
Department of Genetics, Stanford Center for Genomics and Personalized Medicine Stanford University School of Medicine, Stanford, CA, USA.
Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.
出版信息
Mol Syst Biol. 2014 Dec 30;10(12):774. doi: 10.15252/msb.20145487.
Autism is a complex disease whose etiology remains elusive. We integrated previously and newly generated data and developed a systems framework involving the interactome, gene expression and genome sequencing to identify a protein interaction module with members strongly enriched for autism candidate genes. Sequencing of 25 patients confirmed the involvement of this module in autism, which was subsequently validated using an independent cohort of over 500 patients. Expression of this module was dichotomized with a ubiquitously expressed subcomponent and another subcomponent preferentially expressed in the corpus callosum, which was significantly affected by our identified mutations in the network center. RNA-sequencing of the corpus callosum from patients with autism exhibited extensive gene mis-expression in this module, and our immunochemical analysis showed that the human corpus callosum is predominantly populated by oligodendrocyte cells. Analysis of functional genomic data further revealed a significant involvement of this module in the development of oligodendrocyte cells in mouse brain. Our analysis delineates a natural network involved in autism, helps uncover novel candidate genes for this disease and improves our understanding of its molecular pathology.
自闭症是一种病因仍不清楚的复杂疾病。我们整合了之前和新生成的数据,并开发了一个涉及相互作用组、基因表达和基因组测序的系统框架,以识别一个蛋白质相互作用模块,该模块的成员高度富集自闭症候选基因。对25名患者的测序证实了该模块与自闭症有关,随后使用一个超过500名患者的独立队列进行了验证。该模块的表达分为两类,一类是普遍表达的亚组分,另一类是优先在胼胝体中表达的亚组分,而网络中心我们鉴定出的突变对其有显著影响。对自闭症患者胼胝体的RNA测序显示,该模块中存在广泛的基因错误表达,我们的免疫化学分析表明,人类胼胝体主要由少突胶质细胞组成。对功能基因组数据的分析进一步揭示,该模块在小鼠大脑少突胶质细胞的发育中起重要作用。我们的分析描绘了一个与自闭症相关的自然网络,有助于发现该疾病的新候选基因,并增进我们对其分子病理学的理解。