The exon junction complex component Magoh controls brain size by regulating neural stem cell division

被引:145
作者
Silver, Debra L. [1 ]
Watkins-Chow, Dawn E. [1 ]
Schreck, Karisa C. [2 ]
Pierfelice, Tarran J. [2 ]
Larson, Denise M. [1 ]
Burnetti, Anthony J. [1 ]
Liaw, Hung-Jiun [3 ]
Myung, Kyungjae [3 ]
Walsh, Christopher A. [4 ,5 ,6 ]
Gaiano, Nicholas [2 ]
Pavan, William J. [1 ]
机构
[1] NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA
[2] Johns Hopkins Univ, Sch Med, Inst Cell Engn, Baltimore, MD USA
[3] NHGRI, Genet & Mol Biol Branch, NIH, Bethesda, MD 20892 USA
[4] Harvard Univ, Sch Med, Childrens Hosp Boston, Div Genet, Boston, MA USA
[5] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA
[6] Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA
关键词
MESSENGER-RNA LOCALIZATION; CEREBRAL CORTICAL SIZE; SPINDLE ORIENTATION; LISSENCEPHALY GENE; HUMAN-CHROMOSOMES; LIS1; EXPRESSION; SECKEL-SYNDROME; PROTEIN; NEUROGENESIS; NASHI;
D O I
10.1038/nn.2527
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Brain structure and size require precise division of neural stem cells (NSCs), which self-renew and generate intermediate neural progenitors (INPs) and neurons. The factors that regulate NSCs remain poorly understood, and mechanistic explanations of how aberrant NSC division causes the reduced brain size seen in microcephaly are lacking. Here we show that Magoh, a component of the exon junction complex (EJC) that binds RNA, controls mouse cerebral cortical size by regulating NSC division. Magoh haploinsufficiency causes microcephaly because of INP depletion and neuronal apoptosis. Defective mitosis underlies these phenotypes, as depletion of EJC components disrupts mitotic spindle orientation and integrity, chromosome number and genomic stability. In utero rescue experiments showed that a key function of Magoh is to control levels of the microcephaly-associated protein Lis1 during neurogenesis. Our results uncover requirements for the EJC in brain development, NSC maintenance and mitosis, thereby implicating this complex in the pathogenesis of microcephaly.
引用
收藏
页码:551 / U53
页数:10
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