The mouse Engrailed genes:: A window into autism
The mouse Engrailed genes:: A window into autism
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DOI：
10.1016/j.bbr.2006.09.009
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发表时间：
2007-01-10
影响因子：
2.7
通讯作者：
Herrup, Karl
中科院分区：
文献类型：
--
作者：
Kuemerle, Barbara;Gulden, Forrest;Herrup, Karl
在自闭症个体中观察到的复杂的行为症状和神经解剖学异常强烈地暗示了这种令人困惑的疾病的多因素基础。虽然不是完美的模型，但我们相信，遗传基因为自闭症谱系障碍难以捉摸的病因提供了宝贵的“窗口”。在遗传连锁研究中，Engrailed-2基因与自闭症有关。En2基因敲除小鼠的小脑异常与自闭症患者的小脑异常相似，正如我们在这里报道的那样，在大脑皮层的杏仁核位置有明显的前移。我们对En1小鼠基因敲除的背景效应的初步分析，为自闭症相关的可能分子机制和性别差异提供了见解。这些发现进一步证实了Engrailed和自闭症之间的联系，并为正在进行的关于这种多面疾病的生物学基础的研究提供了新的探索途径。(c) 2006 Elsevier B.V.版权所有
The complex behavioral symptoms and neuroanatomical abnormalities observed in autistic individuals strongly suggest a multi-factorial basis for this perplexing disease. Although not the perfect model, we believe the Engrailed genes provide an invaluable "window" into the elusive etiology of autism spectrum disorder. The Engrailed-2 gene has been associated with autism in genetic linkage studies. The En2 knock-out mouse harbors cerebellar abnormalities that are similar to those found in autistic individuals and, as we report here, has a distinct anterior shift in the position of the amygdala in the cerebral cortex. Our initial analysis of background effects in the En1 mouse knock-out provides insight as to possible molecular mechanisms and gender differences associated with autism. These findings further the connection between Engrailed and autism and provide new avenues to explore in the ongoing study of the biological basis of this multifaceted disease. (c) 2006 Elsevier B.V. All rights reserved.