Molecular Pathogenesis of Fanconi Anemia
Molecular Pathogenesis of Fanconi Anemia
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DOI：
10.1007/bf02982016
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发表时间：
2002-02
影响因子：
2.1
通讯作者：
T. Taniguchi;A. D’Andrea
中科院分区：
文献类型：
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作者：
T. Taniguchi;A. D’Andrea
范可尼贫血 (FA) 是一种罕见的常染色体隐性染色体断裂疾病，其特征是儿童期发病的再生障碍性贫血、发育缺陷、癌症易感性和细胞对 DNA 交联剂过敏。 FA患者可分为至少8个互补组（FA-A、FA-B、FA-C、FA-D1、FA-D2、FA-E、FA-F和FA-G）。由 6 个克隆 FA 基因（FANCA、FANCC、FANCD2、FANCE、FANCF 和 FANCG）编码的 FA 蛋白在共同途径中合作，最终导致 FANCD2 蛋白单泛素化以及 FANCD2 和 BRCA1 蛋白在核灶中的共定位。这些 BRCA1 灶与同源重组介导的 DNA 修复过程有关。在这篇综述中，我们将总结 FA 研究领域的当前进展，并重点介绍 FA 途径在 DNA 损伤反应中的一些潜在功能。
Fanconi anemia (FA) is a rare autosomal recessive chromosomal breakage disorder characterized by the childhood onset of aplastic anemia, developmental defects, cancer susceptibility, and cellular hypersensitivity to DNA—cross-linking agents. FA patients can be divided into at least 8 complementation groups (FA-A, FA-B, FA-C, FA-D1, FA-D2, FA-E, FA-F, and FA-G). FA proteins encoded by 6 cloned FA genes (FANCA,FANCC,FANCD2,FANCE,FANCF, andFANCG) cooperate in a common pathway, culminating in the monoubiquitination of FANCD2 protein and colocalization of FANCD2 and BRCA1 proteins in nuclear foci. These BRCA1 foci have been implicated in the process of homologous recombination-mediated DNA repair. In this review, we will summarize the current progress in the field of FA research and highlight some of the potential functions of the FA pathway in DNA-damage response.