深入自闭症核心。
Getting to the Cores of Autism.
机构信息
University of California San Diego, Department of Psychiatry, La Jolla, CA 92093, USA.
University of California San Diego, School of Medicine, Department of Cellular & Molecular Medicine, La Jolla, CA 92093, USA; University of California San Diego, School of Medicine, Department of Pediatrics/Rady Children's Hospital San Diego, La Jolla, CA 92093, USA; University of California San Diego, Kavli Institute for Brain and Mind, La Jolla, CA 92093, USA; Center for Academic Research and Training in Anthropogeny (CARTA), La Jolla, CA 92093, USA.
出版信息
Cell. 2019 Sep 5;178(6):1287-1298. doi: 10.1016/j.cell.2019.07.037.
Abstract
The genetic architecture of autism spectrum disorder (ASD) is itself a diverse allelic spectrum that consists of rare de novo or inherited variants in hundreds of genes and common polygenic risk at thousands of loci. ASD susceptibility genes are interconnected at the level of transcriptional and protein networks, and many function as genetic regulators of neurodevelopment or synaptic proteins that regulate neural activity. So that the core underlying neuropathologies can be further elucidated, we emphasize the importance of first defining subtypes of ASD on the basis of the phenotypic signatures of genes in model systems and humans.
摘要
自闭症谱系障碍（ASD）的遗传结构本身就是一个多样化的等位基因谱，其中包括数百个基因中的罕见新生或遗传变异，以及数千个基因座中的常见多基因风险。ASD 易感基因在转录和蛋白质网络层面相互关联，许多基因作为神经发育的遗传调节剂或调节神经活动的突触蛋白发挥作用。为了进一步阐明潜在的神经病理学基础，我们强调首先根据模型系统和人类中基因的表型特征定义 ASD 的亚型的重要性。
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