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有读书笔记有附件Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

2 chengzhaoping 添加于 2011-3-11 10:53 | 1877 次阅读 | 1 个评论
  •  作 者

    Ignacio Varela1, Patrick Tarpey1, Keiran Raine1, Dachuan Huang2, Choon Kiat Ong2, Philip Stephens1, Helen Davies1, David Jones1, , Meng-Lay Lin1, Jon Teague1, Graham Bignell1, Adam Butler1, Juok Cho1, Gillian L. Dalgliesh1, Danushka Galappaththige1, , Chris Greenman1, Claire Hardy1, Mingming Jia1, Calli Latimer1, KingWai Lau1, John Marshall1, Stuart McLaren1, Andrew Menzies1, , Laura Mudie1, Lucy Stebbings1, David A. Largaespada3, L. F. A.Wessels4, Stephane Richard5, 6, Richard J.Kahnoski7, John Anema7, , David A.Tu ...
  •  摘 要

    The genetics of renal cancer is dominated by inactivation of theVHL tumour suppressor gene in clear cell carcinoma (ccRCC), the commonest histological subtype. A recent large-scale screen of 3,500 genes byPCR-based exonre-sequencingidentified severalnewcancer genes in ccRCC includingUTX (also known asKDM6A)1, JARID1C (also known as KDM5C) and SETD2 (ref. 2). These genes encode enzymes that demethylate (UTX, JARID1C) or methylate (SETD2) key lysine residues of histone H3. Modification of the methylation state of these lysine residues of histoneH3regulates chromatin structure and is implicated in transcriptional control3. However, together these mutations are present in fewer than 15% of ccRCC, suggesting the existence of additional, currently unidentified cancer genes.Here, we have sequenced the protein coding exome in a series of primary ccRCC and report the identification of the SWI/SNF chromatin remodelling complex gene PBRM1 (ref. 4) as a second major ccRCC cancer gene, with truncating mutations in 41% (92/227) of cases. These data further elucidate the somatic genetic architecture of ccRCC and emphasize the marked contribution of aberrant chromatin biology.
  •  详细资料

    • 文献种类:期刊
    • 期刊名称: Nature
    • 期刊缩写: Nature
    • 期卷页: 2011  469 7331 539-542
    • ISBN: 0028-0836
  • 相关链接 DOI URL 

  •  附 件

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  •  chengzhaoping 的文献笔记  订阅

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!reply! quwubin 2011-3-24 08:52
"A recent large-scale screen of 3,500 genes byPCR-based"
这得是多大的一个高通量的PCR实验!?是单重还是多重?

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