APC/C 是否控制人脑大小？：关于“一种新型人类 Cdh1 突变会损害纺锤体促进复合物/周期蛋白体（APC/C）的活性，导致小头畸形、精神运动迟缓以及癫痫”一文的编辑要点，发表于 103 页。
Does APC/C control the human brain size?: An Editorial Highlight for 'A novel human Cdh1 mutation impairs anaphase-promoting complex/cyclosome (APC/C) activity resulting in microcephaly, psychomotor retardation, and epilepsy' on page 103.
机构信息
Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Institute of Functional Biology and Genomics, CSIC, University of Salamanca, Salamanca, Spain.
出版信息
J Neurochem. 2019 Oct;151(1):8-10. doi: 10.1111/jnc.14835. Epub 2019 Aug 23.
This editorial highlights a study by Rodriguez, Sanchez-Moran et al. (2019) in the current issue of the Journal of Neurochemistry, in which the authors describe a microcephalic boy carrying the novel heterozygous de novo missense mutation c.560A> G; p.Asp187Gly in Cdh1/Fzr1 encoding the APC/C E3-ubiquitin ligase cofactor CDH1. A functional characterization of mutant APC/C confirms an aberrant division of neural progenitor cells, a condition known to determine the mouse brain cortex size. These data suggest that APC/C may contribute to the regulation of the human brain size.
本社论重点介绍了 Rodriguez、Sanchez-Moran 等人（2019 年）在《神经化学杂志》当期发表的一项研究。作者描述了一位患有小头症的男孩，他携带新的杂合性从头突变 c.560A>G;p.Asp187Gly，该突变位于 APC/C E3-泛素连接酶辅因子 CDH1 编码的 Cdh1/Fzr1 基因中。对突变 APC/C 的功能特征进行了鉴定，证实了神经祖细胞的异常分裂，这种情况已知会导致小鼠大脑皮层的大小。这些数据表明 APC/C 可能有助于调节人类大脑的大小。
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