Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
FEBS Lett. 2010 Sep 10;584(17):3675-81. doi: 10.1016/j.febslet.2010.05.031. Epub 2010 May 24.
The ability of our cells to maintain genomic integrity is fundamental for protection from cancer development. Central to this process is the ability of cells to recognize and repair DNA damage and progress through the cell cycle in a regulated and orderly manner. In addition, protection of chromosome ends through the proper assembly of telomeres prevents loss of genetic information and aberrant chromosome fusions. Cells derived from patients with ataxia-telangiectasia (A-T) show defects in cell cycle regulation, abnormal responses to DNA breakage, and chromosomal end-to-end fusions. The identification and characterization of the ATM (ataxia-telangiectasia, mutated) gene product has provided an essential tool for researchers in elucidating cellular mechanisms involved in cell cycle control, DNA repair, and chromosomal stability.
我们的细胞维持基因组完整性的能力是防止癌症发展的基础。这一过程的核心是细胞识别和修复 DNA 损伤并以受调控和有序的方式通过细胞周期的能力。此外,通过适当组装端粒来保护染色体末端可防止遗传信息丢失和异常染色体融合。来自共济失调毛细血管扩张症(A-T)患者的细胞显示出细胞周期调控缺陷、对 DNA 断裂的异常反应以及染色体端到端融合。ATM(共济失调毛细血管扩张症,突变)基因产物的鉴定和特征为研究人员阐明细胞周期控制、DNA 修复和染色体稳定性涉及的细胞机制提供了重要工具。