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首页> 外文期刊>Journal of Neuroscience Research >A novel neurofibromin (NF1) interaction with the leucine-rich pentatricopeptide repeat motif-containing protein links neurofibromatosis type 1 and the french canadian variant of Leigh's syndrome in a common molecular complex
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A novel neurofibromin (NF1) interaction with the leucine-rich pentatricopeptide repeat motif-containing protein links neurofibromatosis type 1 and the french canadian variant of Leigh's syndrome in a common molecular complex

机译：一种新型的神经纤维蛋白（NF1）与富含亮氨酸的五肽重复序列重复基序的蛋白质相互作用，将1型神经纤维瘤病和Leigh综合征的法国加拿大变体联系在一起，形成一种常见的分子复合体

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摘要

Loss-of-function mutations and deletions in the neurofibromin tumor suppressor gene (NF1) cause neurofibromatosis type 1 (NF-1), the most common inherited syndrome of the nervous system in humans, with a birth incidence of 1:3,000. The most visible features of NF-1 are the neoplastic manifestations caused by the loss of Ras-GTPase-activating protein (Ras-GAP) activity mediated through the GAP-related domain (GRD) of neurofibromin (NF1), the protein encoded by NF1. However, the syndrome is also characterized by cognitive dysfunction and a number of developmental abnormalities. The molecular etiology of many of these nonneoplastic phenotypes remains unknown. Here we show that the tubulin-binding domain (TBD) of NF1 is a binding partner of the leucine-rich pentatricopeptide repeat motif-containing (LRPPRC) protein. These two proteins complex with Kinesin 5B, hnRNP A2, Staufen1, and Myelin Basic Protein (MBP) mRNA, likely in RNA granules. This interaction is of interest in that it links NF-1 with Leigh's syndrome, French Canadian variant (LSFC), an autosomal recessive neurodegenerative disorder that arises from mutations in the LRPPRC gene. Our findings provide clues to how loss or mutation of NF1 and LRPPRC may contribute to the manifestations of NF-1 and LSFC.
机译：神经纤维蛋白肿瘤抑制基因（NF1）的功能丧失突变和缺失会导致1型神经纤维瘤病（NF-1），这是人类神经系统中最常见的遗传综合征，出生率为1：3,000。 NF-1的最明显特征是由神经纤维蛋白（NF1）的GAP相关域（GRD）介导的Ras-GTPase激活蛋白（Ras-GAP）活性丧失引起的肿瘤表现。 。然而，该综合征还具有认知功能障碍和许多发育异常的特征。许多这些非肿瘤表型的分子病因仍然未知。在这里我们显示，NF1的微管蛋白结合域（TBD）是富含亮氨酸的五肽重复序列重复基序（LRPPRC）蛋白的结合伴侣。这两种蛋白可能与RNA颗粒中的驱动蛋白5B，hnRNP A2，Staufen1和髓磷脂碱性蛋白（MBP）mRNA形成复合物。这种相互作用是令人感兴趣的，因为它将NF-1与Leigh综合征，加拿大法语变异体（LSFC）联系在一起，这是一种由LRPPRC基因突变引起的常染色体隐性神经退行性疾病。我们的发现提供了有关NF1和LRPPRC缺失或突变可能如何促进NF-1和LSFC表现的线索。

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