Methyl-CpG binding protein 2 (MeCP2) was first identified in 1992 as a protein that binds specifically to methylated DNA. Mutations in the MECP2 gene were later found to be the cause of an autism spectrum disorder, Rett syndrome. Despite almost 20 years of research into the molecular mechanisms of MeCP2 function, many questions are yet to be answered conclusively. This review considers several key questions and attempts to evaluate the current state of evidence. For example, is MeCP2 just a methyl-CpG binding protein? Is it a multifunctional protein or primarily a transcriptional repressor? We also consider whether MeCP2, as a chromosome-binding protein, acts at specific sites within the genome or more globally, and in which cell types it is functionally important. Finally, we consider two alternative views of MeCP2 in the brain: as a regulator of brain development or as a factor that helps maintain neuronal/glial function.

中文翻译：

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MeCP2 在大脑中的作用。

甲基-CpG 结合蛋白 2 (MeCP2) 于 1992 年首次被鉴定为一种与甲基化 DNA 特异性结合的蛋白质。后来发现 MECP2 基因的突变是导致自闭症谱系障碍 Rett 综合征的原因。尽管对 MeCP2 功能的分子机制进行了近 20 年的研究，但仍有许多问题尚待最终回答。这篇综述考虑了几个关键问题，并试图评估当前的证据状态。例如，MeCP2 是否只是一种甲基-CpG 结合蛋白？它是一种多功能蛋白质还是主要是一种转录阻遏物？我们还考虑了作为染色体结合蛋白的 MeCP2 是否在基因组内的特定位点或更广泛地作用于基因组内的特定位点，以及它在哪些细胞类型中具有重要的功能。最后，我们考虑大脑中 MeCP2 的两种替代观点：