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脆性X综合征的新见解:从分子到神经行为

New insights into fragile X syndrome: from molecules to neurobehaviors.

作者信息

Jin Peng, Warren Stephen T

机构信息

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

出版信息

Trends Biochem Sci. 2003 Mar;28(3):152-8. doi: 10.1016/S0968-0004(03)00033-1.

Abstract

Fragile X syndrome - a common form of inherited mental retardation - is caused by the loss of the fragile X mental retardation 1 protein (FMRP). FMRP is an RNA-binding protein which forms a messenger ribonucleoprotein (mRNP) complex that associates with translating polyribosomes. It has been proposed that FMRP is involved in synaptic plasticity through the regulation of mRNA transportation and translation. Recent advances in the identification of the mRNA ligands that are bound by FMRP, the RNA sequence and structure required for FMRP-RNA interaction, and the physiological consequences of FMRP deficiency in the brain are important steps towards understanding the molecular pathogenesis of fragile X syndrome, and learning and memory in general.

摘要

脆性X综合征——一种常见的遗传性智力障碍形式——是由脆性X智力障碍1蛋白(FMRP)缺失引起的。FMRP是一种RNA结合蛋白,它形成一种信使核糖核蛋白(mRNP)复合物,该复合物与正在进行翻译的多核糖体相关联。有人提出,FMRP通过调节mRNA运输和翻译参与突触可塑性。在鉴定与FMRP结合的mRNA配体、FMRP-RNA相互作用所需的RNA序列和结构以及FMRP缺乏在大脑中的生理后果方面的最新进展,是朝着理解脆性X综合征的分子发病机制以及一般学习和记忆迈出的重要一步。

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