The Fanconi anemia pathway and DNA interstrand cross-link repair
The Fanconi anemia pathway and DNA interstrand cross-link repair
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DOI：
10.1007/s13238-011-1098-y
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发表时间：
2011-09
期刊：
影响因子：
21.1
通讯作者：
X. Su;Jun Huang
中科院分区：
文献类型：
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作者：
X. Su;Jun Huang
范可尼贫血 (FA) 是一种常染色体或 X 连锁隐性遗传疾病，其特征是染色体不稳定、骨髓衰竭、癌症易感性以及对产生 DNA 链间交联 (ICL) 的药物高度敏感。迄今为止，已鉴定出 15 个基因，当它们发生突变时，会导致 FA 或 FA 样综合征。据信，细胞对 DNA 链间交联剂的抗性需要所有 15 种 FA 或 FA 样蛋白。在这里，我们回顾了目前对这些 FA 蛋白如何参与 ICL 修复的理解，并讨论了调节 FA 途径以维持基因组稳定性的分子机制。
Fanconi anemia (FA) is an autosomal or X-linked recessive disorder characterized by chromosomal instability, bone marrow failure, cancer susceptibility, and a profound sensitivity to agents that produce DNA interstrand cross-link (ICL). To date, 15 genes have been identified that, when mutated, result in FA or an FA-like syndrome. It is believed that cellular resistance to DNA interstrand cross-linking agents requires all 15 FA or FA-like proteins. Here, we review our current understanding of how these FA proteins participate in ICL repair and discuss the molecular mechanisms that regulate the FA pathway to maintain genome stability.