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The FMRP regulon: from targets to disease convergence

机译:FMRP规则:从目标到疾病趋同

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摘要

The fragile X mental retardation protein (FMRP) is an RNA-binding protein that regulates mRNA metabolism. FMRP has been largely studied in the brain, where the absence of this protein leads to fragile X syndrome, the most frequent form of inherited intellectual disability. Since the identification of the FMRP gene in 1991, many studies have primarily focused on understanding the function/s of this protein. Hundreds of potential FMRP mRNA targets and several interacting proteins have been identified. Here, we report the identification of FMRP mRNA targets in the mammalian brain that support the key role of this protein during brain development and in regulating synaptic plasticity. We compared the genes from databases and genome-wide association studies with the brain FMRP transcriptome, and identified several FMRP mRNA targets associated with autism spectrum disorders, mood disorders and schizophrenia, showing a potential common pathway/s for these apparently different disorders.
机译:脆弱的X智力低下蛋白(FMRP)是一种可调节mRNA代谢的RNA结合蛋白。 FMRP已经在大脑中进行了广泛的研究,其中缺乏这种蛋白质会导致脆弱的X综合征,这是遗传性智力障碍的最常见形式。自1991年鉴定FMRP基因以来,许多研究主要集中在了解这种蛋白质的功能上。已经鉴定出数百种潜在的FMRP mRNA靶标和几种相互作用的蛋白质。在这里,我们报告鉴定在哺乳动物脑中支持该蛋白在大脑发育过程中和调节突触可塑性中的关键作用的FMRP mRNA目标。我们将来自数据库和全基因组关联研究的基因与大脑FMRP转录组进行了比较,并确定了与自闭症谱系障碍,情绪障碍和精神分裂症相关的几种FMRP mRNA目标,显示了这些明显不同的障碍的潜在共同途径。

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