| Brain Prize Lecture |
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| 2022年7月1日 16:30～17:30 沖縄コンベンションセンター 劇場棟 第1会場
座長：岡野 栄之（慶應義塾大学医学部生理学教室）
2BPL01
The genetics and epigenetics of Rett Syndrome
*Adrian Peter Bird(1)
1. University of Edinburgh, UK
Keyword: DNA methylation, Rett Syndrome, MeCP2, Neurodevelopmental disorder
Cytosine in DNA can be modified post-synthetically and this affects local protein-DNA interactions. MeCP2 specifically binds to methylated sites in the genome, potentially allowing it to interpret this “epigenetic” mark. Several clinical disorders are caused by MECP2 mutations, including the profound neurological disorder Rett syndrome. The severe Rett-like phenotype in mice can be reversed, raising the possibility that the human disorder is curable. Evidence will be presented that the root cause of Rett syndrome is failure of the primary function of MeCP2, which is to globally restrain gene expression in a DNA methylation-dependent manner. MeCP2 targets non-CG as well as CG-specific methylation. Experiments that evaluate the relative importance of these two modes of DNA binding will be presented. | | | |
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