McGovern Institute for Brain Research, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology (MIT), Cambridge, Massachusetts 02139, USA.
Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts 02142, USA.
Nat Rev Neurosci. 2017 Mar;18(3):147-157. doi: 10.1038/nrn.2016.183. Epub 2017 Feb 9.
Several large-scale genomic studies have supported an association between cases of autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat domains protein 1 (SHANK1), SHANK2 and SHANK3, which encode a family of postsynaptic scaffolding proteins that are present at glutamatergic synapses in the CNS. An evaluation of human genetic data, as well as of in vitro and in vivo animal model data, may allow us to understand how disruption of SHANK scaffolding proteins affects the structure and function of neural circuits and alters behaviour.
几项大规模的基因组研究支持自闭症谱系障碍病例与 SH3 和多个锚蛋白重复结构域蛋白 1（SHANK1）、SHANK2 和 SHANK3 基因的突变之间存在关联，这些基因编码一组存在于中枢神经系统谷氨酸能突触后的支架蛋白。对人类遗传数据以及体外和体内动物模型数据的评估，可能使我们能够了解 SHANK 支架蛋白的破坏如何影响神经回路的结构和功能，并改变行为。
