RNA结合蛋白RBM10及其涉及的主要疾患

刘祎 张小玲

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摘要：RBM10是一种RNA结合蛋白（RBP）,它主要通过选择性剪接（AS）事件来调节多种基因的表达，从而起到抑制细胞增殖，促进细胞凋亡的作用。近年来，研究发现RBM10的突变可以导致多种人类疾病发生，尤其与先天发育异常综合征肺癌肾细胞癌等疾病的发生发展关系密切，因此受到越来越多科研者们的关注。本文就RBM10蛋白结构、RBM10基因突变涉及的主要疾病以及相关信号通路作一综述。

关键词：RBM10;选择性剪接（AS）;先天发育异常综合征;恶性肿瘤;

RNA-binding protein RBM10 and its related major diseases①

LIU Yi,ZHANG Xiaoling②.(Guilin Medical University,Guilin 541199,China)

Abstract RBM10 is an RNA-binding protein(RBP), which mainly regulates the expression of multiple genes through alternative splicing ( AS) evens, thereby inhibiting cell proliferation and promoting cell apoptosis. In recent years, it has been found that RBM10 mutations can lead to a variety of human diseases, especially the occurrence and development of congenital dysplasia syndrome, lung cancer, renal cell carcinoma etc., so more and more researchers pay close attention to it. This review focuses on the structure of RBM10 protein, main diseases and related signaling pathways involved in RBM10 gene mutation.

Keywords: RBM10;alternative splicing(AS);congenital dysplasia syndrome;malignant tumor