Li Hongda, Chang Qiang
Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA ; Genetics Training Program, University of Wisconsin-Madison, Madison, WI 53705,USA.
Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA ; Genetics Training Program, University of Wisconsin-Madison, Madison, WI 53705,USA ; Department of Neurology, University of Wisconsin-Madison, Madison, WI 53705, USA.
Front Biol (Beijing). 2014 Oct;9(5):367-375. doi: 10.1007/s11515-014-1330-2.
DNA methylation-dependent epigenetic regulation plays important roles in the development and function of the mammalian nervous system. MeCP2 is a key player in recognizing methylated DNA and interpreting the epigenetic information encoded in different DNA methylation patterns. Mutations in the gene cause Rett syndrome, a devastating neurological disease that shares many features with autism. One interesting aspect of MeCP2 function is that it can be phosphorylated in response to diverse stimuli. Insights into the regulation and function of MeCP2 phosphorylation will help improve our understanding of how MeCP2 integrates environmental stimuli in neuronal nuclei to generate adaptive responses and may eventually lead to treatments for patients.
DNA甲基化依赖的表观遗传调控在哺乳动物神经系统的发育和功能中发挥着重要作用。MeCP2是识别甲基化DNA并解读不同DNA甲基化模式所编码的表观遗传信息的关键因子。该基因的突变会导致雷特综合征，这是一种严重的神经疾病，与自闭症有许多共同特征。MeCP2功能的一个有趣方面是它可以响应多种刺激而被磷酸化。深入了解MeCP2磷酸化的调控和功能将有助于我们更好地理解MeCP2如何在神经元细胞核中整合环境刺激以产生适应性反应，并最终可能为患者带来治疗方法。
