Laggerbauer B, Ostareck D, Keidel E M, Ostareck-Lederer A, Fischer U
Max-Planck Institute of Biochemistry, Am Klopferspitz 18a, D-82152 Martinsried, Germany.
Hum Mol Genet. 2001 Feb 15;10(4):329-38. doi: 10.1093/hmg/10.4.329.
Fragile X syndrome is a common form of inherited mental retardation. Most fragile X patients exhibit mutations in the fragile X mental retardation gene 1 (FMR1) that lead to transcriptional silencing and hence to the absence of the fragile X mental retardation protein (FMRP). Since FMRP is an RNA-binding protein which associates with polyribosomes, it had been proposed to function as a regulator of gene expression at the post-transcriptional level. In the present study, we show that FMRP strongly inhibits translation of various mRNAs at nanomolar concentrations in both rabbit reticulocyte lysate and microinjected Xenopus laevis oocytes. This effect is specific for FMRP, since other proteins with similar RNA-binding domains, including the autosomal homologues of FMRP, FXR1 and FXR2, failed to suppress translation in the same concentration range. Strikingly, a disease-causing Ile-->Asn substitution at amino acid position 304 (I304N) renders FMRP incapable of interfering with translation in both test systems. Initial studies addressing the underlying mechanism of inhibition suggest that FMRP inhibits the assembly of 80S ribosomes on the target mRNAs. The failure of FMRP I304N to suppress translation is not due to its reduced affinity for mRNA or its interacting proteins FXR1 and FXR2. Instead, the I304N point mutation severely impairs homo-oligomerization of FMRP. Our data support the notion that inhibition of translation may be a function of FMRP in vivo. We further suggest that the failure of FMRP to oligomerize, caused by the I304N mutation, may contribute to the pathophysiological events leading to fragile X syndrome.
脆性X综合征是遗传性智力障碍的一种常见形式。大多数脆性X患者在脆性X智力障碍基因1(FMR1)中存在突变,这些突变导致转录沉默,进而导致脆性X智力障碍蛋白(FMRP)缺失。由于FMRP是一种与多核糖体相关的RNA结合蛋白,有人提出它在转录后水平上作为基因表达的调节因子发挥作用。在本研究中,我们表明FMRP在纳摩尔浓度下能强烈抑制兔网织红细胞裂解物和显微注射的非洲爪蟾卵母细胞中各种mRNA的翻译。这种效应是FMRP特有的,因为其他具有相似RNA结合结构域的蛋白质,包括FMRP的常染色体同源物FXR1和FXR2,在相同浓度范围内未能抑制翻译。引人注目的是,在氨基酸位置304(I304N)处导致疾病的异亮氨酸→天冬酰胺替代使FMRP在两个测试系统中都无法干扰翻译。对抑制潜在机制的初步研究表明,FMRP抑制80S核糖体在靶mRNA上的组装。FMRP I304N未能抑制翻译不是由于其对mRNA或其相互作用蛋白FXR1和FXR2的亲和力降低。相反,I304N点突变严重损害了FMRP的同源寡聚化。我们的数据支持这样一种观点,即抑制翻译可能是FMRP在体内的一种功能。我们进一步表明,由I304N突变引起的FMRP寡聚化失败可能导致导致脆性X综合征的病理生理事件。
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