| PITX2 R62H突变导致角膜环状皮样瘤的分子基础 |
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| 引用本文： | 刘小平,朱飞舟,王 果,邓启盼,张静,李琼,凌捷,邬玲仟,梁德生,潘乾,龙志高,龚惠勇,夏家辉,张灼华,夏 昆. PITX2 R62H突变导致角膜环状皮样瘤的分子基础[J]. 生物化学与生物物理进展, 2008, 35(3): 274-282 |
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| 作者姓名： | 刘小平 朱飞舟 王 果 邓启盼 张静 李琼 凌捷 邬玲仟 梁德生 潘乾 龙志高 龚惠勇 夏家辉 张灼华 夏 昆 |
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| 作者单位： | 1. 中南大学医学遗传学国家重点实验室,长沙,410078
2. 中南大学医学遗传学国家重点实验室,长沙,410078;中南大学生物科学与技术学院,长沙,410013 |
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| 基金项目： | 国家自然科学基金 , 国家重点基础研究发展计划(973计划) |
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| 摘 要： | 角膜环状皮样瘤(RDC)是一种呈常染色体显性遗传的角膜良性肿瘤,前期研究证明,PITX2基因的G185A突变(R62H)是导致RDC发生的原因.为了进一步探讨R62H导致RDC的分子基础,将PITX2构建至原核表达载体,诱导表达后纯化融合蛋白进行EMSA实验,显示R62H与DNA的结合能力并未明显下降.筛选稳定表达PITX2 WT和R62H的HeLa细胞克隆,用流式细胞仪分析细胞周期,并用Quantitative Real-time PCR来检测细胞克隆的β-catenin和Cyclin D1的表达水平,结果发现稳定表达PITX2 R62H的HeLa细胞的增殖活性低于PITX2 WT,且β-catenin和CyclinDl的mRNA水平均比PITX2WT明显下降.由此推测,R62H突变使Wnt/β-catcnin→PITX2信号途径发生改变,促使基因表达异常,导致细胞异常增生和角膜环状皮样瘤的形成.
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| 关 键 词： | 角膜环状皮样瘤(RDC) PITX2 转录因子 β-catcnin Cyclin D1 突变 角膜环状皮样瘤 分子基础 Cornea Ring Mutation 异常增生 基因表达异常 信号途径 平均比 mRNA CyclinDl 增殖活性 细胞周期 发现 结果 表达水平 catenin 检测 Quantitative |
| 收稿时间： | 2007-06-26 |
| 修稿时间： | 2007-06-26 |
Role of PITX2 R62H Mutation in Ring Dermoid of Cornea |
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| LIU Xiao-Ping,ZHU Fei-Zhou,WANG Guo,DENG Qi-Pan,ZHANG Jing,LI Qiong,LING Jie,WU Ling-Qian,LIANG De-Sheng,PAN Qian,LONG Zhi-Gao,GONG Hui-Yong,XIA Jia-Hui,ZHANG Zhuo-Hua and XIA Kun. Role of PITX2 R62H Mutation in Ring Dermoid of Cornea[J]. Progress In Biochemistry and Biophysics, 2008, 35(3): 274-282 |
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| Authors: | LIU Xiao-Ping ZHU Fei-Zhou WANG Guo DENG Qi-Pan ZHANG Jing LI Qiong LING Jie WU Ling-Qian LIANG De-Sheng PAN Qian LONG Zhi-Gao GONG Hui-Yong XIA Jia-Hui ZHANG Zhuo-Hua XIA Kun |
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| Affiliation: | National Laboratory of Medical Genetics, Central South University, Changsha 410078, China;National Laboratory of Medical Genetics, Central South University, Changsha 410078, China;School of Biological Science and Technology, Central South University, Changsha 410013, China;National Laboratory of Medical Genetics, Central South University, Changsha 410078, China;National Laboratory of Medical Genetics, Central South University, Changsha 410078, China;National Laboratory of Medical Genetics, Central South University, Changsha 410078, China;National Laboratory of Medical Genetics, Central South University, Changsha 410078, China;National Laboratory of Medical Genetics, Central South University, Changsha 410078, China;National Laboratory of Medical Genetics, Central South University, Changsha 410078, China;National Laboratory of Medical Genetics, Central South University, Changsha 410078, China;National Laboratory of Medical Genetics, Central South University, Changsha 410078, China;National Laboratory of Medical Genetics, Central South University, Changsha 410078, China;National Laboratory of Medical Genetics, Central South University, Changsha 410078, China;National Laboratory of Medical Genetics, Central South University, Changsha 410078, China;National Laboratory of Medical Genetics, Central South University, Changsha 410078, China;National Laboratory of Medical Genetics, Central South University, Changsha 410078, China;School of Biological Science and Technology, Central South University, Changsha 410013, China |
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