BRCA1 和 BRCA2：在共同的基因组保护途径中扮演不同的角色。
BRCA1 and BRCA2: different roles in a common pathway of genome protection.
机构信息
Molecular Biology Program and Department of Radiation Oncology, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, New York 10065, USA.
出版信息
Nat Rev Cancer. 2011 Dec 23;12(1):68-78. doi: 10.1038/nrc3181.
Abstract
The proteins encoded by the two major breast cancer susceptibility genes, BRCA1 and BRCA2, work in a common pathway of genome protection. However, the two proteins work at different stages in the DNA damage response (DDR) and in DNA repair. BRCA1 is a pleiotropic DDR protein that functions in both checkpoint activation and DNA repair, whereas BRCA2 is a mediator of the core mechanism of homologous recombination. The links between the two proteins are not well understood, but they must exist to explain the marked similarity of human cancer susceptibility that arises with germline mutations in these genes. As discussed here, the proteins work in concert to protect the genome from double-strand DNA damage during DNA replication.
摘要
由两个主要的乳腺癌易感性基因 BRCA1 和 BRCA2 编码的蛋白质在基因组保护的共同途径中发挥作用。然而，这两种蛋白质在 DNA 损伤反应 (DDR) 和 DNA 修复的不同阶段发挥作用。BRCA1 是一种多效性 DDR 蛋白，可在检查点激活和 DNA 修复中发挥作用，而 BRCA2 是同源重组核心机制的介体。这两种蛋白质之间的联系尚不清楚，但为了解释这些基因的种系突变导致的人类癌症易感性的明显相似性，它们必须存在。如这里所讨论的，这些蛋白质协同工作，在 DNA 复制过程中保护基因组免受双链 DNA 损伤。
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