Insertion/deletion polymorphism in the BRCA2 nuclear localization signal
Insertion/deletion polymorphism in the BRCA2 nuclear localization signal
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DOI：
10.2220/biomedres.26.109
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发表时间：
2005-06-01
影响因子：
1.2
通讯作者：
Hashizume, Kazuyoshi
中科院分区：
文献类型：
--
作者：
Yoshikawa, Yasunaga;Morimatsu, Masami;Hashizume, Kazuyoshi
人类 BRCA2 突变会增加女性患乳腺癌的风险。在这项研究中，我们在犬BRCA2中发现了一个新的插入/缺失多态性（10204insAAA，导致氨基酸变化M33321K），该多态性位于假定的第二核定位信号（NLS2）和C-十末端Rad51结合区。当 NLS1 突变时，insAAA C 末端的核定位比 delAAA 序列的定位更有效。在 insAAA 和 delAAA C 末端均观察到强且可比的 Rad51 结合。具有插入/缺失多态性的狗将为研究BRCA2的功能提供新的模型。
Mutations in human BRCA2 confer an increased risk of female breast cancer. In this study, we found a novel insertion/deletion polymorphism (10204insAAA causing amino acid change M33321K) in canine BRCA2, which is located in the putative second nuclear localization signal (NLS2) and C-ten-ninal Rad51-binding region. The nuclear localization of the insAAA C-terminus was more efficient than localization of the delAAA sequence when NLS1 was mutated. Strong, comparable Rad51 binding was observed for both the insAAA and delAAA C-termini. Dogs with the insertion/deletion polymorphism will provide a new model for studying the function of BRCA2.