Bloethner Sandra, Chen Bowang, Hemminki Kari, Müller-Berghaus Jan, Ugurel Selma, Schadendorf Dirk, Kumar Rajiv
Division of Molecular Genetic Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 580, 69120 Heidelberg, Germany.
Carcinogenesis. 2005 Jul;26(7):1224-32. doi: 10.1093/carcin/bgi066. Epub 2005 Mar 10.
We studied global gene expression in three melanoma cell lines with the most common and potent V600E mutation in the B-RAF gene-four cell lines with a common Q61R mutation in the N-RAS gene and three cell lines with no mutations using human HG-U133A 2.0 micro-arrays with 22 277 transcripts. Data analysis using stringent criteria revealed several upregulated and downregulated genes in cell lines with B-RAF and N-RAS mutations compared with cell lines without mutations. We found 29 genes specifically upregulated and 32 genes downregulated in cell lines with B-RAF mutations, whereas 70 genes were upregulated and 39 downregulated in cell lines with N-RAS mutations; 11 genes showed overlapping upregulation and 45 downregulation. The micro-array data for nine selected genes were validated by the real-time PCR technique. Expression of a large number of genes, that encode members or regulators of the RAS/RAF/MEK/ERK pathways or are involved in metastasis or invasion, was affected in cell lines with mutations in B-RAF and N-RAS. Upregulated genes in cell lines with mutations included dual-specificity phosphatase 6 (DUSP6), sprouty 2 (SPRY2), v-akt murine thymoma viral oncogene homolog 3 (AKT3) and matrix metalloproteinase 14 (MMP14); downregulated genes included interleukin 18 (IL18), Krüppel-like factor 5 (KLF5) and inhibitor of DNA binding 2 (ID2). Our results, though carried on cell lines, provide a novel insight into the effect of mutations in the B-RAF and N-RAS genes on global gene expression in melanoma and highlight the complexity of mechanisms involved in tumour initiation and maintenance.
我们使用包含22277个转录本的人类HG-U133A 2.0微阵列,研究了三种携带B-RAF基因最常见且强效的V600E突变的黑色素瘤细胞系、四种携带N-RAS基因常见Q61R突变的细胞系以及三种无突变的细胞系中的全基因组表达情况。使用严格标准进行数据分析后发现,与无突变的细胞系相比,携带B-RAF和N-RAS突变的细胞系中有多个基因上调和下调。我们发现,携带B-RAF突变的细胞系中有29个基因特异性上调,32个基因下调;而携带N-RAS突变的细胞系中有70个基因上调,39个基因下调;11个基因显示出上调重叠,45个基因下调重叠。通过实时PCR技术验证了九个选定基因的微阵列数据。大量编码RAS/RAF/MEK/ERK通路成员或调节因子、或参与转移或侵袭的基因的表达,在携带B-RAF和N-RAS突变的细胞系中受到影响。携带突变的细胞系中上调的基因包括双特异性磷酸酶6(DUSP6)、Sprouty 2(SPRY2)、v-akt小鼠胸腺瘤病毒癌基因同源物3(AKT3)和基质金属蛋白酶14(MMP14);下调的基因包括白细胞介素18(IL18)、Krüppel样因子5(KLF5)和DNA结合抑制因子2(ID2)。我们的研究结果虽然是在细胞系上进行的,但为B-RAF和N-RAS基因突变对黑色素瘤全基因组表达的影响提供了新的见解,并突出了肿瘤发生和维持所涉及机制的复杂性。