Nature Genetics:启动子突变也会影响胰腺癌发生

2017-05-10 生物谷 生物谷

在过去的十年时间里,科学家们通过对外显子进行测序在发现癌症驱动基因方面取得了显著进展。如果癌症是因基因突变累积而导致的疾病,我们就需要知道不同癌症类型中究竟存在哪些基因改变。 在一项发表在国际学术期刊Nature Genetics上的研究中,来自冷泉港实验室的一支研究团队对癌细胞中除外显子之外其余98%的DNA进行了研究。他们收集了308名胰腺癌病人样本,并且胰腺癌细胞的整个基因组都得到

在过去的十年时间里,科学家们通过对外显子进行测序在发现癌症驱动基因方面取得了显著进展。如果癌症是因基因突变累积而导致的疾病,我们就需要知道不同癌症类型中究竟存在哪些基因改变。


在一项发表在国际学术期刊Nature Genetics上的研究中,来自冷泉港实验室的一支研究团队对癌细胞中除外显子之外其余98%的DNA进行了研究。他们收集了308名胰腺癌病人样本,并且胰腺癌细胞的整个基因组都得到了测序。研究人员将他们的研究重点缩小到基因的启动子,由于启动子位于它们调控的基因附近,并不在基因内部,因此在进行外显子测序时,启动子是不可见的。

研究人员表示,启动子在决定基因开启和关闭方面有重要作用,他们对于启动子突变是否能够影响癌症发育以及癌细胞自身维持特别感兴趣。但是研究表明启动子突变并没有发生在胰腺癌中经常发生突变的一些基因附近。比如KRAS和p53在大多数胰腺癌细胞中都存在突变,研究人员利用新的计算方法在这些基因之外的其他启动子区域发现了一些突变可能参与胰腺癌。

研究人员指出启动子发生突变能够影响蛋白表达量。这种方式与KRAS和p53等基因发生突变所产生的影响不同,这些基因通常会损伤或改变它们编码的蛋白的功能。虽然启动子突变并没有发生在已知的胰腺癌相关基因附近,但是研究人员发现启动子突变仍然影响了一些相同信号途径,多数突变会影响参与细胞黏附和轴突导向的一些基因。

这些新数据加深了我们对于这些关键信号途径在癌症形成方面发挥作用的理解,这些信号途径还可能为癌细胞提供生长优势让它们从健康细胞中脱颖而出。

原始出处:

Michael E Feigin,et al. Recurrent noncoding regulatory mutations in pancreatic ductal adenocarcinoma. Nature Genetics(2017) doi:10.1038/ng.3861

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    2017-05-28 canlab
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    2018-03-18 huperzia
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    2017-12-18 liye789132251
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    2017-05-20 cy0324
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    2017-05-10 1e1b8538m79(暂无匿称)

    所以基因研究的重要性就体现出来了

    0

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