NF2/Merlin的生物学功能及其在肿瘤发生中的作用  

Biological Function of NF2/Merlin and Its Role in Tumorigenesis

作　　者：李梦瑶 贾则晓 雷昭莹 丁雪 杨树旭[2] 严庆丰[1,3,4] LI Mengyao;JIA Zexiao;LEI Zhaoying;DING Xue;YANG Shuxu;YAN Qingfeng(College of Life Sciences,Zhejiang University,Hangzhou 310058,China;Department of Neurosurgery,Sir Run Run Shaw Hospital,Zhejiang University School of Medicine,Hangzhou 310016,China;Department of Pediatrics,the First Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou 310003,China;Key Laboratory for Cell and Gene Engineering of Zhejiang Province,Hangzhou 310058,China)

机构地区：[1]浙江大学生命科学学院,杭州310058 [2]浙江大学医学院附属邵逸夫医院神经外科,杭州310016 [3]浙江大学医学院附属第一医院儿科,杭州310003 [4]浙江省细胞与基因工程重点实验室,杭州310058

出　　处：《中国细胞生物学学报》2021年第12期2382-2392,共11页Chinese Journal of Cell Biology

基　　金：国家自然科学基金(批准号:32070584、31771398);浙江省自然科学基金(批准号:LZ19C060001)资助的课题。

摘　　要：神经纤维蛋白2基因(NF2)最初从Ⅱ型神经纤维瘤病患者中被克隆并鉴定,其编码抑癌蛋白Merlin(Moesin-Ezrin-Radixin-like protein),介导细胞连接,参与Hippo、磷脂酰肌醇3-激酶(phosphatidylinositol 3-kinase,PI3K)/蛋白激酶B(protein kinase B,PKB/AKT)/哺乳动物雷帕霉素靶蛋白(mammalian target of rapamycin,mTOR)、Wnt/β-catenin和受体酪氨酸激酶(receptor tyrosine kinases,RTKs)等信号通路的调控,从而调控细胞生命活动。NF2基因突变或Merlin蛋白功能异常除引发神经鞘瘤、脑膜瘤和室管膜瘤等神经系统肿瘤外,还与肝癌、乳腺癌等多种恶性肿瘤相关。该文在简单介绍NF2基因及其编码蛋白Merlin的结构、变异和活性修饰等基础上,详细综述NF2/Merlin的生物学功能及其在肿瘤发生中的作用机制等研究进展。NF2(neurofibromin 2)was cloned and identified from patients with neurofibromatosis type 2.NF2 gene encodes tumor suppressor protein Merlin(Moesin-Ezrin-Radixin-like protein),which mediates cell junctions and participates in Hippo,PI3K/AKT/mTOR(phosphatidylinositol 3-kinase/protein kinase B/mammalian target of rapamycin),Wnt/β-catenin and RTKs(receptor tyrosine kinases)signaling pathways.NF2 mutation or Merlin dysfunction may cause not only neurofibromatosis type 2 with schwannoma,meningioma and ependymoma,but also liver cancer,breast cancer and many other malignant tumors.This review summarizes the structure,variation and modification of NF2/Merlin,and introduces the research progress in the biological function of NF2/Merlin and its role and mechanism in tumorigenesis in detail.

关 键 词：神经纤维蛋白2基因(NF2) MERLIN Ⅱ型神经纤维瘤病 肿瘤发生 

分 类 号：R730.2[医药卫生—肿瘤]