THE PROTEIN PRODUCT OF THE FRAGILE-X GENE, FMR1, HAS CHARACTERISTICS OF AN RNA-BINDING PROTEIN
THE PROTEIN PRODUCT OF THE FRAGILE-X GENE, FMR1, HAS CHARACTERISTICS OF AN RNA-BINDING PROTEIN
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DOI：
10.1016/0092-8674(93)90420-u
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发表时间：
1993-07-30
期刊：
影响因子：
64.5
通讯作者：
DREYFUSS, G
中科院分区：
文献类型：
--
作者：
SIOMI, H;SIOMI, MC;DREYFUSS, G
脆性X染色体综合征是人类最常见的遗传性疾病之一，也是遗传性智力低下的最常见原因。导致脆性X综合征的基因FMR1最近被鉴定和测序，并发现编码一种功能未知的假定蛋白质。在这里，我们报道了FMR1包含两种最近在rna结合蛋白中发现的序列基序：一个RGG盒和两个异质核RNP K同源结构域。我们还证明了FMR1在体外与RNA结合。利用FMR1的抗体，我们检测到它在不同生物体和未受影响的人类细胞中的表达，但脆弱的x感染患者表达很少或没有FMR1。这些发现表明FMR1表达与脆性X综合征直接相关，提示抗FMR1抗体对脆性X综合征的诊断具有重要意义。此外，FMR1的RNA结合活性为了解FMR1的功能开辟了道路。
Fragile X syndrome is one of the most common human genetic diseases and the most common cause of hereditary mental retardation. The gene that causes fragile X syndrome, FMR1, was recently identified and sequenced and found to encode a putative protein of unknown function. Here we report that FMR1 contains two types of sequence motifs recently found in RNA-binding proteins: an RGG box and two heterogeneous nuclear RNP K homology domains. We also demonstrate that FMR1 binds RNA in vitro. Using antibodies to FMR1, we detect its expression in divergent organisms and in cells of unaffected humans, but fragile X-affected patients express little or no FMR1. These findings demonstrate that FMR1 expression is directly correlated with the fragile X syndrome and suggest that anti-FMR1 antibodies will be important for diagnosis of fragile X syndrome. Furthermore, the RNA binding activity of FMR1 opens the way to understanding the function of FMR1.