Della Ragione Floriana, Vacca Marcella, Fioriniello Salvatore, Pepe Giuseppe, D'Esposito Maurizio
Brief Funct Genomics. 2016 Nov;15(6):420-431. doi: 10.1093/bfgp/elw023. Epub 2016 Jun 12.
It has been a long trip from 1992, the year of the discovery of MECP2, to the present day. What is surprising is that some of the pivotal roles of MeCP2 were already postulated at that time, such as repression of inappropriate expression from repetitive elements and the regulation of pericentric heterochromatin condensation. However, MeCP2 performs many more functions. MeCP2 is a reader of epigenetic information contained in methylated (and hydroxymethylated) DNA, moving from the 'classical' CpG doublet to the more complex view addressed by the non-CpG methylation, which is a feature of the postnatal brain. MECP2 is a transcriptional repressor, although when it forms complexes with the appropriate molecules, it can become a transcriptional activator. For all of these aspects, Rett syndrome, which is caused by MECP2 mutations, is considered a paradigmatic example of a 'chromatin disorder'. Even if the hunt for bona-fide MECP2 target genes is far from concluded today, the role of MeCP2 in the maintenance of chromatin architecture appears to be clearly established. Taking a cue from the non-scientific literature, we can firmly attest that MeCP2 is a player with 'a great future behind it'*.*V. Gassmann 'Un grande avvenire dietro le spalle'. TEA Eds.
从1992年发现MECP2至今，已经过去了很长时间。令人惊讶的是，当时就已经推测出MeCP2的一些关键作用，比如抑制重复元件的不适当表达以及调控着丝粒周围异染色质凝聚。然而，MeCP2还发挥着更多功能。MeCP2是甲基化（和羟甲基化）DNA中所含表观遗传信息的读取器，从“经典”的CpG双联体转向了由非CpG甲基化所涉及的更复杂观点，非CpG甲基化是产后大脑的一个特征。MECP2是一种转录抑制因子，尽管当它与合适的分子形成复合物时，它可以成为转录激活因子。就所有这些方面而言，由MECP2突变引起的雷特综合征被认为是“染色质疾病”的一个典型例子。即使如今寻找真正的MECP2靶基因的工作远未结束，但MeCP2在维持染色质结构中的作用似乎已明确确立。从非科学文献中得到启示，我们可以坚定地证明MeCP2是一个“有着辉煌未来”的参与者。V. 加斯曼 《背后的伟大未来》。TEA出版社
