THE FMR-1 PROTEIN IS CYTOPLASMIC, MOST ABUNDANT IN NEURONS AND APPEARS NORMAL IN CARRIERS OF A FRAGILE X PREMUTATION
THE FMR-1 PROTEIN IS CYTOPLASMIC, MOST ABUNDANT IN NEURONS AND APPEARS NORMAL IN CARRIERS OF A FRAGILE X PREMUTATION
复制标题
DOI：
10.1038/ng0893-335
复制
发表时间：
1993-08-01
期刊：
影响因子：
30.8
通讯作者：
MANDEL, JL
中科院分区：
文献类型：
--
作者：
DEVYS, D;LUTZ, Y;MANDEL, JL
脆性X智力低下综合征是由FMR-1基因中CGG重复序列的不稳定扩增引起的。在具有完全突变的患者中，异常甲基化导致FMR-1转录的抑制。FMR-1在许多组织中表达，但其功能尚不清楚。我们已经提出了FMR-1蛋白的特异性单克隆抗体。他们检测到4-5条蛋白带，这些蛋白带在正常男性和携带前突变的男性的细胞中看起来相同，但在具有完全突变的受影响男性中不存在。免疫组织化学显示FMR-1的细胞质定位。在神经元中观察到最高水平，而神经胶质细胞中的水平非常低。在上皮组织中，FMR-1的水平在分裂层中较高。在成年睾丸中，FMR-1仅在精原细胞中检测到。FMR-1在正常心肌和真皮中均未检测到。
Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene. In patients with a full mutation, abnormal methylation results in suppression of FMR-1 transcription. FMR-1 is expressed in many tissues but its function is unknown. We have raised monoclonal antibodies specific for the FMR-1 protein. They detect 4-5 protein bands which appear identical in cells of normal males and of males carrying a premutation, but are absent in affected males with a full mutation. Immunohistochemistry shows a cytoplasmic localization of FMR-1. The highest levels were observed in neurons, while glial cells contain very low levels. In epithelial tissues, levels of FMR-1 were higher in dividing layers. In adult testis, FMR-1 was detected only in spermatogonia. FMR-1 was not detected in dermis and cardiac muscle except under pathological conditions.