FMR1 PROTEIN - CONSERVED RNP FAMILY DOMAINS AND SELECTIVE RNA-BINDING
FMR1 PROTEIN - CONSERVED RNP FAMILY DOMAINS AND SELECTIVE RNA-BINDING
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DOI：
10.1126/science.7692601
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发表时间：
1993-10-22
期刊：
影响因子：
56.9
通讯作者：
WARREN, ST
中科院分区：
文献类型：
--
作者：
ASHLEY, CT;WILKINSON, KD;WARREN, ST
脆性X综合征是由于三核苷酸重复扩增突变导致的基因FMR 1转录抑制的结果。FMR1蛋白（FMRP）的正常功能及其缺失导致智力低下的机制尚不清楚。核糖核蛋白颗粒（RNP）结构域内的FMRP，和RNA结合的化学计量比，这表明有两个RNA结合位点，每个FMRP分子。FMRP能够以高亲和力（解离常数= 5.7 nM）结合自己的信息，并与大约4%的人类胎儿大脑信息相互作用。FMRP与X综合征之间缺乏正常的相互作用。
Fragile X syndrome is the result of transcriptional suppression of the gene FMR1 as a result of a trinucleotide repeat expansion mutation. The normal function of the FMR1 protein (FMRP) and the mechanism by which its absence leads to mental retardation are unknown. Ribonucleoprotein particle (RNP) domains were identified within FMRP, and RNA was shown to bind in stoichiometric ratios, which suggests that there are two RNA binding sites per FMRP molecule. FMRP was able to bind to its own message with high affinity (dissociation constant = 5.7 nM) and interacted with approximately 4 percent of human fetal brain messages. The absence of the normal interaction of FMRP with a X syndrome.