Zhou Zhaolan, Hong Elizabeth J, Cohen Sonia, Zhao Wen-Ning, Ho Hsin-Yi Henry, Schmidt Lauren, Chen Wen G, Lin Yingxi, Savner Erin, Griffith Eric C, Hu Linda, Steen Judith A J, Weitz Charles J, Greenberg Michael E
Neurobiology Program, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA.
Neuron. 2006 Oct 19;52(2):255-69. doi: 10.1016/j.neuron.2006.09.037.
Mutations or duplications in MECP2 cause Rett and Rett-like syndromes, neurodevelopmental disorders characterized by mental retardation, motor dysfunction, and autistic behaviors. MeCP2 is expressed in many mammalian tissues and functions as a global repressor of transcription; however, the molecular mechanisms by which MeCP2 dysfunction leads to the neural-specific phenotypes of RTT remain poorly understood. Here, we show that neuronal activity and subsequent calcium influx trigger the de novo phosphorylation of MeCP2 at serine 421 (S421) by a CaMKII-dependent mechanism. MeCP2 S421 phosphorylation is induced selectively in the brain in response to physiological stimuli. Significantly, we find that S421 phosphorylation controls the ability of MeCP2 to regulate dendritic patterning, spine morphogenesis, and the activity-dependent induction of Bdnf transcription. These findings suggest that, by triggering MeCP2 phosphorylation, neuronal activity regulates a program of gene expression that mediates nervous system maturation and that disruption of this process in individuals with mutations in MeCP2 may underlie the neural-specific pathology of RTT.
MECP2基因的突变或重复会导致雷特综合征及雷特综合征样疾病,这些神经发育障碍的特征包括智力迟钝、运动功能障碍和自闭症行为。MeCP2在许多哺乳动物组织中表达,并作为转录的全局抑制因子发挥作用;然而,MeCP2功能障碍导致RTT神经特异性表型的分子机制仍知之甚少。在这里,我们表明神经元活动及随后的钙内流通过CaMKII依赖性机制触发MeCP2丝氨酸421(S421)位点的从头磷酸化。MeCP2 S421磷酸化在大脑中因生理刺激而被选择性诱导。重要的是,我们发现S421磷酸化控制MeCP2调节树突形态、棘突形态发生以及Bdnf转录的活性依赖性诱导的能力。这些发现表明,通过触发MeCP2磷酸化,神经元活动调节了介导神经系统成熟的基因表达程序,而MeCP2突变个体中这一过程的破坏可能是RTT神经特异性病理的基础。