不一致修復遺伝子Msh6の変異は,がんの感受性を引き起こす
1Department of Cell Biology, Albert Einstein College of Medicine, Bronx, New York 10461, USA.
Cell
|December 9, 1997
まとめ
MSH6不一致修復遺伝子が欠けているマウスは,腫瘍を発症し,寿命が短くなった. これは,MSH6の変異が,マイクロサテライトの不安定性なくとも,癌の感受性に寄与することを示唆しています.
科学分野:
- 遺伝学 遺伝学とは
- 分子生物学は分子生物学である.
- がん研究 がん研究
背景:
- DNA不一致修復 (MMR) は,ゲノムの安定性にとって極めて重要です.
- MSH6遺伝子はMMRシステムの重要な構成要素です.
- MMR遺伝子の欠陥は,様々ながんと関連しています.
研究 の 目的:
- DNA修復とがんの発症におけるMSH6の役割を調査する.
- Msh6欠乏マウスのフェノタイプを特徴付けるために.
主な方法:
- 遺伝子ターゲティングは,Msh6-nullマウスを作成するために使用されました.
- 細胞抽出物は,不一致修復活動について評価されました.
- 腫瘍の発達とマイクロサテライトの不安定性は,突然変異したマウスで分析されました.
主要な成果:
- Msh6-ホモジゴス細胞は,単一のヌクレオチド不一致の欠陥修復を示しました.
- Msh6欠乏したマウスは寿命が短縮され,胃腸腫瘍やリンパ腫を含む様々な腫瘍を発症しました.
- これらのマウスの腫瘍は,マイクロサテライトの不安定性を示しませんでした.
結論:
- MSH6は,単一のヌクレオチドの不一致を修復するために不可欠です.
- MSH6の変異は,がんに対する感受性を与える.
- ゲルムラインMSH6変異は,マイクロサテライトの不安定性とは無関係な癌予備症候群と関連している可能性があります.
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