Sakai Wataru, Sugasawa Kaoru
Biosignal Research Center, and Graduate School of Science, Kobe University, 1-1 Rokkodai, Nada, Kobe, Hyogo 657-8501 Japan.
Genes Environ. 2019 Mar 6;41:6. doi: 10.1186/s41021-019-0122-y. eCollection 2019.
Fanconi anemia (FA) is a rare genetic disease characterized by the deficiency of the cellular response and repair pathway for DNA interstrand crosslink (ICL) damage. Although recent studies have revealed the detailed molecular functions of FA proteins encoded by 22 genes, the mechanism of occurrence of endogenous ICLs in the human body remains poorly understood. In this short review, we summarize the potential endogenous sources of ICLs counteracted by FA proteins, and provide perspectives on the unanswered questions regarding FA.
范可尼贫血（FA）是一种罕见的遗传性疾病，其特征是细胞对DNA链间交联（ICL）损伤的应答和修复途径存在缺陷。尽管最近的研究揭示了由22个基因编码的FA蛋白的详细分子功能，但人体中内源性ICL的发生机制仍知之甚少。在这篇简短的综述中，我们总结了被FA蛋白抵消的ICL的潜在内源性来源，并对关于FA的未解决问题提供了观点。
