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首页> 外文期刊>Journal of Experimental Neuroscience >Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP:
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Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP:

机译：FMR1中的单核苷酸突变揭示了脆弱的X综合征蛋白FMRP的新功能和调控机制：

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摘要

Fragile X syndrome is a monogenic disorder and a common cause of intellectual disability. Despite nearly 25 years of research on FMR1, the gene underlying the syndrome, very few pathological mutations other than the typical CGG-repeat expansion have been reported. This is in contrast to other X-linked, monogenic, intellectual disability disorders, such as Rett syndrome, where many point mutations have been validated as causative of the disorder. As technology has improved and significantly driven down the cost of sequencing, allowing for whole genes to be sequenced with relative ease, in-depth sequencing studies on FMR1 have recently been performed. These studies have led to the identification of novel variants in FMR1, where some of which have been functionally evaluated and are likely pathogenic. In this review, we discuss recently identified FMR1 variants, the ways these novel variants cause dysfunction, and how they reveal new regulatory mechanisms and functionalities of the gene.
机译：脆性X综合征是一种单基因疾病，是智力残疾的常见原因。尽管对FMR1（该综合征的潜在基因）进行了近25年的研究，但除了典型的CGG重复扩增外，几乎没有病理突变的报道。这与其他X连锁，单基因，智力障碍性疾病（例如Rett综合征）相反，在后者中，许多点突变已被证实是导致该疾病的原因。随着技术的进步和显着降低测序成本，允许相对轻松地对整个基因进行测序，最近已对FMR1进行了深入的测序研究。这些研究已导致鉴定出FMR1中的新变体，其中一些已经过功能评估，可能具有致病性。在这篇综述中，我们讨论了最近发现的FMR1变体，这些新变体引起功能障碍的方式，以及它们如何揭示该基因的新调节机制和功能。

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