Expression profiling suggests underexpression of the GABAA receptor subunit δ in the fragile X knockout mouse model

Expression profiling suggests underexpression of the GABAA receptor subunit δ in the fragile X knockout mouse model
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DOI:
10.1016/j.nbd.2005.07.017
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发表时间:
2006-02-01
影响因子:
6.1
通讯作者:
Kooy, RF
Kooy, RF
中科院分区:
医学1区
文献类型:
--
作者:
Gantois, I;Vandesompele, J;Kooy, RF

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目前还不清楚为什么缺乏脆性X蛋白(FMRP)会导致智力迟钝和特定的行为问题。在神经元中,该蛋白将特定的mRNA转运到突触附近活跃翻译的核糖体。为了阐明导致这种疾病的机制,我们使用脆性X小鼠模型,通过差异显示方法进行了全局基因表达分析。为了验证差异表达,我们使用微阵列技术和实时PCR。三个差异表达的cDNA在脆性X基因敲除小鼠中表现出一致的低表达,包括GABA(A)受体亚基6、Rho鸟嘌呤交换因子12和EST BU563433。此外,我们确定了5个基因,显示依赖于RNA分析的样品的差异表达。我们认为他们的差分表达式是临时的。这些差异表达的基因可能在脆性X综合征中观察到的认知和行为问题中发挥重要作用。0 2005 Elsevier Inc. All rights reserved.
It is still unclear why absence of the fragile X protein (FMRP) leads to mental retardation and specific behavioral problems. In neurons, the protein transports specific mRNAs towards the actively translating ribosomes near the synapses.To unravel the mechanism leading to the disorder, we performed global gene expression analysis by means of the differential display method using the fragile X mouse model. To verify differential expression, we used microarray technology and real-time PCR. Three differentially expressed cDNAs showed consistent underexpression in the fragile X knockout mouse, including a GABA(A) receptor subunit 6, a Rho guanine exchange factor 12 and an EST BU563433. In addition, we identified 5 genes that showed differential expression dependent on the sample of RNA analysis. We consider their differential expression as provisional. It is possible that these differentially expressed genes play an important role in the cognitive and behavioral problems observed in the fragile X syndrome. 0 2005 Elsevier Inc. All rights reserved.