PDF(Sci-hub)
Abstract：
Rett Syndrome (RTT) is a neurological disorder mainly associated with mutations in the X-linked gene coding for the methyl-CpG binding protein 2 (MECP2). To assist in studying MECP2\'s function, researchers have generated Mecp2 mouse mutants showing that MECP2\'s product (MeCP2) mostly functions as a transcriptional regulator. During the last two decades, these models have been used to determine the genes that are regulated by MeCP2, slowly dissecting the etiological mechanisms underlying RTT. In the present review, we describe the findings of these transcriptomic studies, and highlight differences between them, and discuss how studies on these genetic models can sharpen our understanding of the human disorder. We conclude that - while there\'s large variability regarding the number of differentially expressed genes identified - there are overlapping features that inform on the biology of RTT.
摘要：
暂无翻译
