Abstract
Imprinting is a method used by organisms to regulate gene expression during development. One method by which genes are identified as ready to be turned ‘on’ or ‘off’ is DNA methylation. Thus, defects in DNA methylation can result in abnormalities in gene expression, resulting in abnormal development. Rett syndrome is a neurodevelopmental disorder that is caused by one of many possible mutations in the methyl-CpG-binding protein 2 (MeCP2). Mutations in MeCP2 are thought to result in defects in gene regulation that lead to abnormal brain development.
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