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作 者:朱家平 姜祎群[1] Zhu Jiaping;Jiang Yiqun(Institute of Dermatology,Chinese Academy of Medical Sciences and Peking Union Medical College,Nanjing 210042,China)
机构地区:[1]中国医学科学院北京协和医学院皮肤病研究所,南京210042
出 处:《肿瘤综合治疗电子杂志》2022年第4期6-9,共4页Journal of Multidisciplinary Cancer Management(Electronic Version)
基 金:中国医学科学院医学与健康科技创新工程2021年临床与转化医学研究专项(2021-I2M-C&T-B-087)。
摘 要:CYLD基因是位于16号染色体的抑癌基因,其突变可导致家族性圆柱瘤病等遗传性皮肤附属器肿瘤。近来研究发现CYLD基因编码一种K63特异性去泛素化酶,通过作用于核因子κB(nuclear factor-κB,NF-κB)通路中的TRAF2、NEMO等位点抑制NF-κB通路活化,同时亦参与调节JNK、Hedgehog等信号通路,发挥抗肿瘤效应。本文回顾并总结了CYLD基因发挥抗肿瘤效应的具体分子机制,讨论了CYLD基因突变在其所致皮肤附属器肿瘤表型发展中的意义。CYLD gene is a tumor suppressor gene located on chromosome 16.Its mutations lead to the development of a series of hereditary skin appendage tumors such as familial cylindromatosis.Recently,the CYLD gene has been shown to encode a K63 specific deubiquitinating enzyme that acts on TRAF2,NEMO,etc.to inhibit the activation of the nuclear factor-κB (NF-κB) pathway.It is also involved in the regulation of pathways such as JNK and Hedgehog.By acting on these signaling pathways,it plays a significant role in the regulation of cell apoptosis and tumorgenesis.This review summarizes the details of the molecular mechanisms by which CYLD gene exerts tumor suppressing effects,and the role of CYLD gene mutations in the phenotypic variability of skin appendage tumors they cause.
关 键 词:CYLD基因 家族性圆柱瘤病 多发性家族性毛发上皮瘤 核因子ΚB
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