脆性X相关蛋白Ⅰ的研究进展

Advance in Fragile X-Related Ⅰ Protein Research

脆性X相关基因I(FXR1)发现于1995年,位于3号染色体3q28。其产物脆性X相关蛋白1(FXR1P)与脆性X智障蛋白1 (FMR1P)、脆性X相关蛋白2(FXR2P)形成一个RNA结合蛋白家族。目前认为这三种蛋白能输送mRNA分子并调控其翻译过程。FXR1的翻译产物(FXR1P)分子中存在两个KH结构域和一个RGG结构域,这两种结构域与FXR1P分子的RNA结合作用有关。FXR1P的表达具有较高的组织特意性,在横纹肌中表达最高。合适的动物模型对于一种蛋白的功能研究具有十分重要的意义,目前,FXR1敲除的各种动物模型如小鼠、斑马鱼、非洲爪蟾的近亲Xenopus tropicalis已经在不同的实验室建立。本文主要介绍了FXR1P的结构特点、功能及其实验动物模型。

Fragile X related I gene （FXR1） was first discovered in 1995 and is located on the third chromosome at 3q28. Its product, fragile X-related 1 protein （FXR1P）, is one member of the small family of RNA-binding proteins that includes the Fragile X mental retardation 1 protein （FMR1P） and the Fragile X-related 2 protein （FXR2P）. These proteins are thought to transport mRNA and to control their translation. FXRI encodes a protein which is highly conserved in vertebrates, and contains two KH domains and an RGG domain, conferring RNA-binding capabilities. Fxrlp is highly expressed in striated mnscle tissue and shows a tissue-specific expression particularly during late embryonic development. Proper models are very important for the study of the function of a new protein. FXR1-knockout mouse, Danio rerio, and Xenopns tropicalis have already been generated to study the function of FXR1 in vivo. This article mainly reviewed the molecular structure and the function, and the animal models of FXR1P.