Lo H Shuen, Hu Nan, Gere Sheryl, Lu Ning, Su Hua, Goldstein Alisa M, Taylor Philip R, Lee Maxwell P
Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Cancer Res. 2002 Aug 1;62(15):4191-3.
We mapped a tumor suppressor gene locus to an 800-kb interval on human chromosome 13q12.11 for esophageal squamous cell carcinoma (ESCC). Two genes, ML-1 and RNF6, are located within this 800-kb interval. We analyzed both genes for the presence of mutations in 24 ESCC primary tumors and 16 tumor cell lines by directly sequencing the PCR products that were amplified from each exon. No mutation was detected in ML-1. In contrast, three somatic mutations in the RNF6 gene were detected in the ESCC primary tumors, and one mutation was also found in a tumor cell line. Identification of multiple somatic mutations in RNF6 suggests that RNF6 is a potential tumor suppressor gene involved in the pathogenesis of ESCC.
我们将一个肿瘤抑制基因位点定位到人类染色体13q12.11上一个800 kb的区间，该区间与食管鳞状细胞癌（ESCC）相关。两个基因，ML-1和RNF6，位于这个800 kb的区间内。我们通过直接对从每个外显子扩增的PCR产物进行测序，分析了这两个基因在24个ESCC原发肿瘤和16个肿瘤细胞系中的突变情况。在ML-1中未检测到突变。相反，在ESCC原发肿瘤中检测到RNF6基因的三个体细胞突变，在一个肿瘤细胞系中也发现了一个突变。RNF6中多个体细胞突变的鉴定表明，RNF6是一个参与ESCC发病机制的潜在肿瘤抑制基因。
