腎臓がんのシステマティックシーケンシングは,ヒストン改変遺伝子の不活性化を示しています
Gillian L Dalgliesh1, Kyle Furge, Chris Greenman
1Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.
Nature
|January 8, 2010
まとめ
研究者らは,一般的な腎臓がんであるクリアセル腎臓細胞癌 (ccRCC) の新しい遺伝子変異を特定しました. これらの変異はヒストンの改変に関与する遺伝子に影響し,VHL遺伝子変異を超えて有意な遺伝的多様性を明らかにします.
科学分野:
- 遺伝学 遺伝学とは
- 腫瘍学 腫瘍学
- 分子生物学は分子生物学である.
背景:
- クリア・セル腎臓細胞癌 (ccRCC) は,成人における腎臓がんで最も一般的である.
- ほとんどのccRCC症例は,VHL遺伝子の不活性化変異を特徴としています.
- 既知の癌遺伝子の体内変異は,ccRCCではまれである.
研究 の 目的:
- ccRCC.の遺伝的風景をさらに解明するために.
- ccRCCの発達に関与する新しい遺伝子と経路を特定する.
主な方法:
- 3544のタンパク質をコードする遺伝子の101のccRCC症例の配列解析.
- ソマティック変異の識別と分析.
主要な成果:
- SETD2 (ヒストンH3ライシン36メチルトランスフェラーゼ) とJARID1C/KDM5C (ヒストンH3ライシン4デメチラーゼ) の不活性化変異が発見されました.
- UTX/KMD6A (ヒストンH3ライシン27脱甲基酶) の変異が確認されました.
- 特定されたNF2変異は,VHL変異と他の潜在的な癌遺伝子のないccRCC症例で.
結論:
- 染色体改変機構の部品の変異は,ccRCCの病原化に役割を果たしています.
- ccRCCでは,VHL遺伝子変異を超えて,有意な遺伝的異質性が存在します.
- 系統的な遺伝子スクリーニングは,ccRCCの体的遺伝子構造を全面的に理解するために不可欠です.
関連する概念動画
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The histone proteins in the nucleosomes are post-translationally modified (PTM) to increase or decrease access to DNA. The commonly observed PTMs are methylation, acetylation, phosphorylation, and ubiquitination of lysine amino acids in the histone H3 tail region. These histone modifications have specific meaning for the cell. Hence, they are called "histone code". The protein complex involved in histone modification is termed as "reader-writer" complex.
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