Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.
Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.
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DOI：
10.1016/j.blre.2016.10.002
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发表时间：
2017-05
期刊：
影响因子：
7.4
通讯作者：
Howlett NG
中科院分区：
文献类型：
--
作者：
Mamrak NE;Shimamura A;Howlett NG
范可尼贫血 (FA) 是一种罕见的常染色体 X 连锁遗传病，其特征是先天性异常、进行性骨髓衰竭 (BMF) 和成年早期癌症风险增加。 FA 患者的中位寿命约为 33 年。 FA 基因编码的蛋白质在 FA-BRCA 途径中共同发挥作用，修复 DNA 损伤并维持基因组稳定性。在过去两年中，已鉴定出 5 个新 FA 基因 - RAD51/ FANCR、BRCA1/FANCS、UBE2T/FANCT、XRCC2/FANCU 和 REV7/FANCV - 使致病基因总数达到 21 个。这篇综述总结了这些新 FA 基因的发现，并描述了这些蛋白质如何整合到 FA-BRCA 通路中以维持基因组稳定性并关键预防早发性 BMF 和癌症。
Fanconi anemia (FA) is a rare autosomal and X-linked genetic disease characterized by congenital abnormalities, progressive bone marrow failure (BMF), and increased cancer risk during early adulthood. The median lifespan for FA patients is approximately 33 years. The proteins encoded by the FA genes function together in the FA-BRCA pathway to repair DNA damage and to maintain genome stability. Within the past two years, five new FA genes have been identified - RAD51/ FANCR, BRCA1/FANCS, UBE2T/FANCT, XRCC2/FANCU, and REV7/FANCV - bringing the total number of disease-causing genes to 21. This review summarizes the discovery of these new FA genes and describes how these proteins integrate into the FA-BRCA pathway to maintain genome stability and critically prevent early-onset BMF and cancer.