Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein
文献类型：期刊论文
| 作者 | Guo, RB ; Rigolet, P ; Ren, H ; Zhang, B ; Zhang, XD ; Dou, SX ; Wang, PY ; Amor-Gueret, M ; Xi, XG |
| 刊名 | NUCLEIC ACIDS RESEARCH
 |
| 出版日期 | 2007 |
| 卷号 | 35期号:18页码:6297 |
| ISSN号 | 0305-1048 |
| 中文摘要 | Bloom syndrome (BS) is an autosomal recessive disorder characterized by genomic instability and the early development of many types of cancer. Missense mutations have been identified in the BLM gene (encoding a RecQ helicase) in affected individuals, but the molecular mechanism and the structural basis of the effects of these mutations remain to be elucidated. We analysed five disease-causing missense mutations that are localized in the BLM helicase core region: Q672R, I841T, C878R, G891E and C901Y. The disease-causing mutants had low ATPase and helicase activities but their ATP binding abilities were normal, except for Q672, whose ATP binding activity was lower than that of the intact BLM helicase. Mutants C878R, mapping near motif IV, and G891E and C901Y, mapping in motif IV, displayed severe DNA-binding defects. We used molecular modelling to analyse these mutations. Our work provides insights into the molecular basis of BLM pathology, and reveals structural elements implicated in coupling DNA binding to ATP hydrolysis and DNA unwinding. Our findings will help to explain the mechanism underlying BLM catalysis and interpreting new BLM causing mutations identified in the future. |
| 收录类别 | SCI |
| 公开日期 | 2013-09-24 |
| 源URL | [http://ir.iphy.ac.cn/handle/311004/53206]  |
| 专题 | 物理研究所_物理所公开发表论文_物理所公开发表论文_期刊论文 |
| 推荐引用方式 GB/T 7714 | Guo, RB,Rigolet, P,Ren, H,et al. Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein[J]. NUCLEIC ACIDS RESEARCH,2007,35(18):6297. |
| APA | Guo, RB.,Rigolet, P.,Ren, H.,Zhang, B.,Zhang, XD.,...&Xi, XG.(2007).Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein.NUCLEIC ACIDS RESEARCH,35(18),6297. |
| MLA | Guo, RB,et al."Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein".NUCLEIC ACIDS RESEARCH 35.18(2007):6297. |
入库方式： OAI收割
来源：物理研究所
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