Schwemmle S, de Graaff E, Deissler H, Gläser D, Wöhrle D, Kennerknecht I, Just W, Oostra B A, Döerfler W, Vogel W, Steinbach P
Abteilung Medizinische Genetik, Universität Ulm, Germany.
Am J Hum Genet. 1997 Jun;60(6):1354-62. doi: 10.1086/515456.
Fragile X syndrome is associated with silencing of the FMR1 gene. We studied the transcriptional regulation, by analysis of the FMR1 promoter region for the presence of in vivo protein/DNA interactions and for cytosine methylation at the single-nucleotide level. Four protein-binding sites were present in the unmethylated promoter of the active FMR1 gene. In the methylated promoter of inactive genes no footprints were detected, and no evidence of active repression was found in the region investigated. We propose that the silencing of FMR1 gene transcription results from a lack of transcription-factor binding.
脆性X综合征与FMR1基因的沉默有关。我们通过分析FMR1启动子区域，研究其体内蛋白质/DNA相互作用以及单核苷酸水平的胞嘧啶甲基化情况，从而对转录调控进行了研究。在活跃的FMR1基因的未甲基化启动子中存在四个蛋白质结合位点。在不活跃基因的甲基化启动子中未检测到足迹，在所研究区域也未发现主动抑制的证据。我们认为FMR1基因转录的沉默是由于缺乏转录因子结合所致。
