A nonsense mutation in the Xeroderma pigmentosum complementation group F (XPF) gene is associated with gastric carcinogenesis.
A nonsense mutation in the Xeroderma pigmentosum complementation group F (XPF) gene is associated with gastric carcinogenesis.
复制标题
着色性干皮病互补组 F (XPF) 基因中的无义突变与胃癌发生有关。
DOI：
10.1016/j.gene.2013.12.061
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发表时间：
2014-03
期刊：
影响因子：
3.5
通讯作者：
Guo-Hui Fu
中科院分区：
文献类型：
--
作者：
Wen-HuanGuo;Jun Wu;Suo-Wen Hao;Guo-Hui Fu
XPF/ERCC1 endonuclease is required for DNA lesion repair. To assess effects of a C2169A nonsense mutation inXPFat position 2169 in gastric cancer tissues and cell lines, genomic DNA was extracted from blood samples of 488 cancer patients and 64 gastric tumors. The mutation was mapped using a TaqMan MGB probe. In addition, gastric cancer cell lines were transfected with mutatedXPFto explore XPF/ERCC1 interaction, XPF degradation, and DNA repair by a comet assay. The C2169A mutation was not detected in 488 samples of blood genomic DNA, yet was found in 32 of 64 gastric cancer tissue samples (50.0%), resulting in a 194C-terminal amino acid loss in XPF protein and lower expression. Laser micro-dissection confirmed that this point mutation was not present in surrounding normal tissues from the same patients. The truncated form of XPF (tXPF) impaired interaction with ERCC1, was rapidly degraded via ubiquitination, and resulted in reduced DNA repair. In gastric cancers, the mutation was monoallelic, indicating thatXPFis a haplo-insufficient DNA repair gene. As the C2169A mutation is closely associated with gastric carcinogenesis in the Chinese population, our findings shine light on it as a therapeutic target for early diagnosis and treatment of gastric cancer.
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影响因子：
3.5
作者：
E. Zintzaras
通讯作者：
E. Zintzaras
影响因子：
2
作者：
K. Kirschner;D. Melton
通讯作者：
K. Kirschner;D. Melton
影响因子：
8
作者：
M. Wang;L. Yuan;D. Wu;Z. Zhang;C. Yin;G. Fu;Q. Wei
通讯作者：
M. Wang;L. Yuan;D. Wu;Z. Zhang;C. Yin;G. Fu;Q. Wei
影响因子：
56.9
作者：
Wood, RD;Mitchell, M;Lindahl, T
通讯作者：
Lindahl, T
影响因子：
--
作者：
H. Suzumura;O. Arisaka
通讯作者：
H. Suzumura;O. Arisaka