Department of Biochemistry and Molecular Biology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Front Biosci (Landmark Ed). 2010 Jun 1;15(3):1131-49. doi: 10.2741/3666.
Fanconi anemia (FA) is a recessive genetic disorder characterized by developmental defects, bone marrow failure, and cancer susceptibility. The complete set of FA genes has only been identified recently and seems to be uniquely conserved among vertebrates. Fanconi anemia proteins have been implicated in the repair of interstrand DNA crosslinks that block DNA replication and transcription. Although all thirteen FA complementation groups show similar clinical and cellular phenotypes, approximately 85% of patients presented defective FANCA, FANCC, or FANCG. The established DNA interacting components (FANCM, FANCI, FANCD2, and FANCJ) account only for approximately 5% of all FA patients, an observation that raises doubt concerning the roles of FA proteins in DNA repair. In recent years, rapid progress in the area of FA research has provided great insights into the critical roles of FA proteins in DNA repair. However, many FA proteins do not have identifiable domains to indicate how they contribute to biological processes, particularly DNA repair. Therefore, future biochemical studies are warranted to understand the biological functions of FA proteins and their implications in human diseases.
范可尼贫血症（FA）是一种隐性遗传疾病，其特征为发育缺陷、骨髓衰竭和癌症易感性。FA 的所有基因最近才被鉴定出来，而且似乎在脊椎动物中是独一无二的。范可尼贫血症蛋白已被牵涉到修复阻碍 DNA 复制和转录的链间 DNA 交联。尽管所有十三个 FA 互补群都表现出相似的临床和细胞表型，但约 85%的患者存在 FANCA、FANCC 或 FANCG 的缺陷。已确定的 DNA 相互作用成分（FANCM、FANCI、FANCD2 和 FANCJ）仅占所有 FA 患者的约 5%，这一观察结果使人对 FA 蛋白在 DNA 修复中的作用产生了怀疑。近年来，FA 研究领域的快速进展为 FA 蛋白在 DNA 修复中的关键作用提供了重要的见解。然而，许多 FA 蛋白没有可识别的结构域来表明它们如何参与生物过程，特别是 DNA 修复。因此，未来的生化研究对于理解 FA 蛋白的生物学功能及其在人类疾病中的意义是必要的。
