Divergence and inheritance of neocortical heterotopia in inbred and genetically-engineered mice.
Divergence and inheritance of neocortical heterotopia in inbred and genetically-engineered mice.
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近交系和基因工程小鼠新皮质异位的分化和遗传。
DOI：
10.1016/j.neulet.2016.12.038
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发表时间：
2017
影响因子：
2.5
通讯作者：
Ramos,RaddyL
中科院分区：
文献类型：
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作者：
Toia,AlyssaR;Cuoco,JoshuaA;Esposito,AnthonyW;Ahsan,Jawad;Joshi,Alok;Herron,BruceJ;Torres,German;Bolivar,ValerieJ;Ramos,RaddyL
皮层功能来自于新皮层神经元的内在特性及其在层内和层间的突触连接。影响新皮层迁移和层压的神经发育障碍导致认知延迟/残疾和癫痫。分子层异位（MLH）是一种以神经元过度迁移到第一层为特征的发育不良，与人类和小鼠的认知缺陷和神经元过度兴奋性有关。表现出MLH的不同近交小鼠品系的宽度和异位的遗传模式仍然未知。对许多不同近交系小鼠、2个第一子代（F1）杂交种和1个经济系（C57BL/6J-Chr 1A/J/NaJ）的神经解剖学调查显示，MLH仅在C57BL/6小鼠和经济系中存在。在C57BL/6基因背景下，在许多基因工程小鼠系中观察到异位。这些数据表明异位形成是一种弱渗透性状，需要1号染色体外一个或多个C57BL/6等位基因的纯合性。这些数据对理解新皮层发育和影响新皮层层压的疾病具有重要意义。
Cortical function emerges from the intrinsic properties of neocortical neurons and their synaptic connections within and across lamina. Neurodevelopmental disorders affecting migration and lamination of the neocortex result in cognitive delay/disability and epilepsy. Molecular layer heterotopia (MLH), a dysplasia characterized by over-migration of neurons into layer I, are associated with cognitive deficits and neuronal hyperexcitability in humans and mice. The breadth of different inbred mouse strains that exhibit MLH and inheritance patterns of heterotopia remain unknown. A neuroanatomical survey of numerous different inbred mouse strains, 2 first filial generation (F1) hybrids, and one consomic strain (C57BL/6J-Chr 1A/J/NaJ) revealed MLH only in C57BL/6 mice and the consomic strain. Heterotopia were observed in numerous genetically-engineered mouse lines on a congenic C57BL/6 background. These data indicate that heterotopia formation is a weakly penetrant trait requiring homozygosity of one or more C57BL/6 alleles outside of chromosome 1. These data are relevant toward understanding neocortical development and disorders affecting neocortical lamination.