Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3ε).
Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3ε).
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DOI：
10.3390/brainsci12010056
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发表时间：
2021-12-30
期刊：
影响因子：
3.3
通讯作者：
Toyo-Oka K
中科院分区：
文献类型：
--
作者：
Liu X;Bennison SA;Robinson L;Toyo-Oka K
17p13.3染色体区域通常在人类中缺失或复制，导致严重的神经发育障碍，如米勒-迪克尔综合征（MDS）和17p13.3复制综合征。无脑畸形也可以由基因突变或17p13.3区域的一小部分缺失引起，包括单个基因或几个基因。PAFAH 1B 1基因编码LIS 1蛋白，是无脑畸形和MDS的致病基因，通过动力蛋白控制微管和沿着微管转运货物来调节神经元的迁移。CRK是reelin信号通路的下游调节因子，并调节神经元迁移。编码14-3-3ε的YWHAE也负责MDS，并通过与LIS 1相互作用蛋白NDEL 1结合来调节神经元迁移。虽然已知这三种蛋白质与MDS中的神经元迁移缺陷有关，但在染色体17p13.3上的MDS关键区域中还有23个其他基因，并且对它们在神经发育，特别是在神经元迁移中的功能知之甚少。本文就LIS 1、CRK和14-3-3ε在MDS神经元迁移中的作用及其他分子在MDS神经元迁移中的作用作一综述。
The 17p13.3 chromosome region is often deleted or duplicated in humans, resulting in severe neurodevelopmental disorders such as Miller–Dieker syndrome (MDS) and 17p13.3 duplication syndrome. Lissencephaly can also be caused by gene mutations or deletions of a small piece of the 17p13.3 region, including a single gene or a few genes. PAFAH1B1 gene, coding for LIS1 protein, is a responsible gene for lissencephaly and MDS and regulates neuronal migration by controlling microtubules (MTs) and cargo transport along MTs via dynein. CRK is a downstream regulator of the reelin signaling pathways and regulates neuronal migration. YWHAE, coding for 14-3-3ε, is also responsible for MDS and regulates neuronal migration by binding to LIS1-interacting protein, NDEL1. Although these three proteins are known to be responsible for neuronal migration defects in MDS, there are 23 other genes in the MDS critical region on chromosome 17p13.3, and little is known about their functions in neurodevelopment, especially in neuronal migration. This review will summarize the recent progress on the functions of LIS1, CRK, and 14-3-3ε and describe the recent findings of other molecules in the MDS critical regions in neuronal migration.
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影响因子：
23.9
作者：
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通讯作者：
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影响因子：
5.3
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通讯作者：
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作者：
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通讯作者：
Toyo-Oka, Kazuhito
影响因子：
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作者：
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通讯作者：
Gimelli, Giorgio