Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice
Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice
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DOI：
10.1093/hmg/ddn061
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发表时间：
2008-06-15
影响因子：
3.5
通讯作者：
Young, Juan I.
中科院分区：
文献类型：
--
作者：
Kerr, Bredford;Alvarez-Saavedra, Matias;Young, Juan I.
MeCP 2是一种丰富的蛋白质，其结合DNA中的甲基化胞嘧啶残基并调节转录。MECP 2的突变导致Rett综合征，这是一种严重的神经系统疾病，影响约1：10000的女性。已经产生了缺乏MeCP 2的小鼠，并构成了Rett综合征的重要模型。然而，目前还不清楚某些生理事件是否对MeCP 2的减少敏感，而不是完全缺乏。在这里，我们报告说，Mecp 2 floxed等位基因（Mecp 2（lox）），产生允许条件诱变的行为作为一个亚型和相应的突变小鼠表现出表型改变，包括体重增加，运动异常和改变社会行为。我们的数据强化了中枢神经系统对MeCP 2表达水平极其敏感的观点，并表明Mecp 2的3 '-UTR可能包含有助于调节其稳定性或加工的重要元件。
MeCP2 is an abundant protein that binds to methylated cytosine residues in DNA and regulates transcription. Mutations in MECP2 cause Rett syndrome, a severe neurological disorder that affects approximately 1:10 000 females. Mice lacking MeCP2 have been generated and constitute important models of Rett syndrome. However, it is yet unclear whether certain physiological events are sensitive to a decrease, rather than a complete lack of MeCP2. Here we report that a Mecp2 floxed allele (Mecp2(lox)) that was generated to allow conditional mutagenesis behaves as a hypomorph and the corresponding mutant mice exhibit phenotypical alterations including body weight gain, motor abnormalities and altered social behavior. Our data reinforce the view that the central nervous system is extremely sensitive to MeCP2 expression levels and suggest that the 3'-UTR of Mecp2 might contain important elements that contribute to the regulation of its stability or processing.