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人类小脑症基因1与基因组稳定性

Microcephalin 1 and genomic stability
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摘要 人类小脑症基因1(Microcephalin 1,MCPH1)又叫人端粒酶逆转录酶抑制基因(BRCT-repeat inhibitor of hTERT expression,BRIT1),它编码一个110 kD的含有835个氨基酸的核结合DNA损伤应答蛋白,能与癌症相关基因蛋白(E2F、p53、BRCA1/2等)、DNA损伤应答蛋白(ATM、ATR、RAD51和CondensinⅡ等)以及细胞周期调节蛋白(CDK1、cyclins)等多种重要蛋白相互作用,它能参与到细胞周期调控、DNA损伤修复以及抑制肿瘤发生发展等多种细胞活动中,在维持基因组稳定性方面起重要作用。本文对MCPH1的生化结构、维持基因组稳定性以及在人类肿瘤中所发挥的作用做一综述。 Human microcephalin 1（MCPH1）,also known as BRCT-repeat inhibitor of hTERT expression（BRIT1）,is a chromatinbinding DNA damage response protein containing 835 amino acids with 110 kD molecular weight. It interacts directly with a variety of important proteins including cancer-related gene proteins（E2F,p53,BRCA1/2,etc）,DNA damage response proteins（ATM,ATR, RAD51 and Condensin Ⅱ,etc）and cell-cycle regulators（CDK1,cyclins）. MCPH1 is likely to play an important role in the maintenance of genomic stability through its activities in cell-cycle progression,DNA damage repair,and tumor suppressor. In this review, we summarized the biochemistry structure of MCPH1 and its role in maintaining the genomic stability and described the relationship of MCPH1 deficiency with human cancer development.
作者 张冀 袁成福 宋方洲
机构地区 重庆医科大学分子医学与肿瘤研究中心
出处 《重庆医科大学学报》 CAS CSCD 北大核心 2014年第5期634-637,共4页 Journal of Chongqing Medical University
基金 国家自然科学基金资助项目(编号:30800410)
关键词 人类小脑症基因1 DNA损伤应答 DNA修复 肿瘤抑制 microcephalin 1 DNA damage response DNA repair tumor suppressor
分类号 R34 [医药卫生—基础医学]
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参考文献43

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重庆医科大学学报
2014年 第5期

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