His239Arg SNP of HRAD9 is associated with lung adenocarcinoma
His239Arg SNP of HRAD9 is associated with lung adenocarcinoma
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DOI：
10.1002/cncr.21705
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发表时间：
2006-03-01
期刊：
影响因子：
6.2
通讯作者：
Okita, Y
中科院分区：
文献类型：
--
作者：
Maniwa, Y;Yoshimura, M;Okita, Y
背景。此前有报道称，一种功能性人类 (h) Rad9 蛋白在非小细胞肺癌 (NSCLC) 细胞的细胞核中积累。然而，这些实验并没有检查这些细胞中的 hRad9 基因是否发生突变。研究了NSCLC细胞中HRAD9基因的序列。在手术期间从 50 名肺腺癌患者获得的肿瘤和周围正常肺组织中检查了 HRAD9 的序列。还使用逆转录聚合酶链式反应(RT-PCR)检查了其mRNA的表达。结果。 HRAD9 基因没有检测到序列改变，该基因在手术切除的王癌细胞中正常转录。然而，在 8 例 (16.0%) 病例中，在该基因的密码子 239（His/Arg 杂合变体）的第二个位置观察到单核苷酸多态性 (SNP)。该频率明显高于正常人群中的频率。 结论。虽然肺腺癌细胞中产生功能性 hRad9 蛋白的能力是完整的，但检测到 HRAD9 的非同义 SNP，该 SNP 可能与肺腺癌的发生有关。
BACKGROUND. It was previously reported that a functional human (h) Rad9 protein accumulated in the nuclei of nonsmall cell lung carcinoma (NSCLC) cells. Those experiments, however, did not examine whether the hRad9 gene was mutated in those cells. The sequence of the HRAD9 gene in NSCLC cells was investigated.METHODS. The sequence of the HRAD9 was examined in tumor and peripheral normal lung tissues obtained from 50 lung adenocarcinoma patients during surgery. The expression of its mRNA using reverse transcription polymerase chain reaction (RT-PCR) was also examined.RESULTS. No sequence alterations were detected in the HRAD9 gene, which was found to be normally transcribed in surgically resected king carcinoma cells. However, in eight (16.0%) cases a single nucleotide polymorphism (SNP) was observed at the second position of codon 239 (His/Arg heterozygous variant) of the gene. This frequency was significantly higher than that found in the nornial population.CONCLUSIONS. whereas the capacity to produce a functional hRad9 Protein was intact in lung adenocarcinoma cells, a nonsynonymous SNP of HRAD9 was detected that might be associated with the development of lung adenocarcinoma.