Molecular analysis of FMR1 reactivation in fragile-X induced pluripotent stem cells and their neuronal derivatives

• 来源期刊: 分子细胞生物学报（英文版）
• 年，卷（期）: 2012,（3）
• 页码范围: 180-183
• 页数: 4页
• 语种: 英文
• DOI: 10.1093/jmcb/mjs007

摘要

Dear Editor, Patient-specific induced pluripotent stem (iPS) cells,generated from somatic cells of disease-affected individuals,hold a tremendous potential for studying disease mechanisms and for drug screening approaches using cell types previously not available (Yamanaka,2008).Fragile-X (FX) syndrome belongs to the autism spectrum disorders,and is the most common cause of inherited mental retardation with the prevalence of 1/3600 (Crawford et al.,2001).It is nearly always caused by silencing of the FMR1 gene due to abnormal CGG repeat expansions in the 5'-UTR of the gene (Verkerk et al.,1991).Abnormal CGG repeat expansion of over 200 repeats leads to transcriptional silencing and CpG methylation of the gene 5'-UTR and the gene promoter (Sutcliffe et al.,1992).