鉴定 BRCA1 中导致其同源 DNA 重组功能丧失的肿瘤突变。
Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.
机构信息
Department of Biomedical Informatics, Ohio State University, Columbus, Ohio 43210, USA.
出版信息
Cancer Res. 2010 Feb 1;70(3):988-95. doi: 10.1158/0008-5472.CAN-09-2850. Epub 2010 Jan 26.
Effects of breast cancer-associated gene 1 (BRCA1) missense mutations on the function of BRCA1 protein in DNA recombination have been little studied. In this report, we adapted a homology-directed recombination (HDR) assay to analyze the effects of BRCA1 mutations on this function. Using a HeLa-derived cell line with a genomically integrated recombination substrate, we expressed an endonuclease creating a double-stranded break in the substrate that the HDR assay scores by generation of green fluorescent protein-positive cells. By combining RNA interference (RNAi) that targets cellular BRCA1 mRNA with expression of RNAi-resistant BRCA1 mutants, we could effectively substitute selected point mutants to test these in the cellular recombination assay. We found that approximately 300 residues at both termini of the BRCA1 protein were essential for HDR. Whereas some mutations analyzed were neutral, mutations that altered any zinc-coordinating residue or generated M18T and T37R alterations were defective for recombination. This study established a robust assay system to analyze the function of BRCA1 in regulating homologous recombination, which is critical for its tumor suppressor function.
乳腺癌相关基因 1 (BRCA1) 错义突变对 BRCA1 蛋白在 DNA 重组中的功能的影响研究甚少。在本报告中,我们采用同源定向重组 (HDR) 测定法来分析 BRCA1 突变对该功能的影响。使用具有基因组整合重组底物的 HeLa 衍生细胞系,我们表达了一种内切酶,在底物中产生双链断裂,HDR 测定法通过产生绿色荧光蛋白阳性细胞来评分。通过将靶向细胞 BRCA1 mRNA 的 RNA 干扰 (RNAi) 与 RNAi 抗性 BRCA1 突变体的表达相结合,我们可以有效地替代选定的点突变,在细胞重组测定中测试这些突变。我们发现 BRCA1 蛋白的两端约 300 个残基对于 HDR 是必需的。虽然分析的一些突变是中性的,但改变任何锌配位残基或产生 M18T 和 T37R 改变的突变对于重组是有缺陷的。本研究建立了一个强大的测定系统来分析 BRCA1 调节同源重组的功能,这对于其肿瘤抑制功能至关重要。