Kerr Bredford, Alvarez-Saavedra Matías, Sáez Mauricio A, Saona Alexandra, Young Juan I
Centro de Estudios Científicos, Valdivia 5110246, Chile.
Hum Mol Genet. 2008 Jun 15;17(12):1707-17. doi: 10.1093/hmg/ddn061. Epub 2008 Mar 4.
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.
MeCP2是一种丰富的蛋白质,它与DNA中甲基化的胞嘧啶残基结合并调节转录。MECP2基因的突变会导致雷特综合征,这是一种严重的神经疾病,大约每10000名女性中就有1人受影响。已经培育出缺乏MeCP2的小鼠,它们构成了雷特综合征的重要模型。然而,目前尚不清楚某些生理事件对MeCP2的减少是否敏感,而不是对其完全缺失敏感。在这里,我们报告一种为实现条件性诱变而产生的Mecp2基因的条件性等位基因(Mecp2(lox))表现为亚效等位基因,相应的突变小鼠表现出包括体重增加、运动异常和社交行为改变等表型变化。我们的数据强化了这样一种观点,即中枢神经系统对MeCP2的表达水平极其敏感,并表明Mecp2的3'-非翻译区可能包含有助于调节其稳定性或加工过程的重要元件。