Bienvenu Thierry, Chelly Jamel
Institut Cochin, Départment de Génétique et Developpement, Paris, F-75014 France.
Nat Rev Genet. 2006 Jun;7(6):415-26. doi: 10.1038/nrg1878.
The discovery that Rett syndrome is caused by mutations that affect the methyl-CpG-binding protein MeCP2 provided a major breakthrough in understanding this severe neurodevelopmental disorder. Animal models and expression studies have contributed to defining the role of MeCP2 in development, highlighting its contribution to postnatal neuronal morphogenesis and function. Furthermore, in vitro assays and microrray studies have delineated the potential molecular mechanisms of MeCP2 function, and have indicated a role in the transcriptional silencing of specific target genes. As well as unravelling the mechanisms that underlie Rett syndrome, these studies provide more general insights into how DNA-methylation patterns are recognized and translated into biological outcomes.
雷特综合征由影响甲基化CpG结合蛋白MeCP2的突变所引起，这一发现为理解这种严重的神经发育障碍带来了重大突破。动物模型和表达研究有助于明确MeCP2在发育中的作用，突出了其对出生后神经元形态发生和功能的贡献。此外，体外试验和微阵列研究已经阐明了MeCP2功能的潜在分子机制，并表明其在特定靶基因转录沉默中发挥作用。这些研究不仅揭示了雷特综合征背后的机制，还为DNA甲基化模式如何被识别并转化为生物学结果提供了更普遍的见解。
