| 共济失调毛细血管扩张症突变基因与端粒不稳定性关系研究进展 |
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| 引用本文： | 王宏梅,夏云飞,伍新尧.共济失调毛细血管扩张症突变基因与端粒不稳定性关系研究进展[J].遗传学报,2004,31(2):212-216. |
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| 作者姓名： | 王宏梅 夏云飞 伍新尧 |
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| 作者单位： | 1. 中山大学中山医学院法医物证教研室,广州 510080
2. 中山大学肿瘤防治中心,广州 510080 |
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| 基金项目： | 国家自然科学基金项目 (No .30 0 70 2 37)资助~~ |
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| 摘 要： | 在电离辐射等因素造成的DNA损伤修复信号传导过程中，共济失调毛细血管扩张症突变基因(ATM)起关键作用。同时，ATM属于P13K家族成员，其功能与保持端粒长度有关。端粒是真核细胞内染色体末端的重复的DNA序列，端粒的长短和稳定性决定了细胞的寿命。ATM突变导致端粒的不稳定性，包括端粒连接、端粒染色质结构变化，影响端粒聚集等。
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| 关 键 词： | 共济失调毛细血管扩张症突变基因 端粒 DNA损伤 信号传导 |
| 文章编号： | 0379-4172(2004)02-0212-05 |
ATM and Telomere Instability |
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| WANG Hong-Mei,XIA Yun-Fei,WU Xin-Yao.ATM and Telomere Instability[J].Journal of Genetics and Genomics,2004,31(2):212-216. |
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| Authors: | WANG Hong-Mei XIA Yun-Fei WU Xin-Yao |
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| Institution: | WANG Hong-Mei~1,XIA Yun-Fei~2,WU Xin-Yao~ |
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| Abstract: | Accumulation of DNA damage has been associated with the onset of senescence and the predisposition to cancer.The gene responsible for ataxia telangiectasia (A-T) is ATM (Ataxia-telangiectasia mutant),a master controller of cellular pathways and networks,orchestrating the response to a specific type of DNA damage,i.e,the double strand break.It has now been demonstrated that mutations in ATM lead to defective telomere maintenance in mammalian cells.This review will focus on its roles in telomere metabolism and how ATM and telomeres serve as controllers of cellular responses to DNA damage. |
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| Keywords: | ATM telomere DNA damage signal transduction |
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