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腫瘍抑制剤BAP1の喪失は,骨髄膜変異を引き起こします
Anwesha Dey1, Dhaya Seshasayee, Rajkumar Noubade
1Department of Physiological Chemistry, Genentech, 1 DNA Way, South San Francisco, CA 94080, USA.
Science (New York, N.Y.)
|August 11, 2012
まとめ
脱ユビキチン化酵素BAP1は,胚の発達と表遺伝子調節体の安定化に不可欠です. 成人マウスにおけるその喪失は,ヒトの神髄分裂症候群を模倣し,BAP1を強調する.
科学分野:
- 腫瘍学 腫瘍学
- 遺伝学 遺伝学とは
- エピジェネティクス エピジェネティクス
背景:
- デウビキチン化酵素BAP1は,メソテリオマやウエアルメラノーマなどの遺伝性がんに関与している.
- BAP1の体内変異は,様々な悪性腫瘍で観察されています.
研究 の 目的:
- 哺乳類の発達と疾患におけるBAP1のインビボ機能を調査する.
- BAP1.1の分子相互作用と調節作用を解明する.
主な方法:
- Bap1遺伝子の削除 (胚性および成人性,全身性および血液形成制限) を有するマウスモデルの生成.
- タグ付けされたBAP1タンパク質を発現するノッキンマウスの生成.
- タンパク質とタンパク質の相互作用とBap1の欠失の分子的結果の分析.
主要な成果:
- Bap1遺伝子の削除は,マウスの胚に致命的です.
- 大人のBap1デリエーションモデルは,ヒトの骨髄分裂症候群 (MDS) の特徴を示しています.
- BAP1は,HCF-1,OGT,ASXL1/ASXL2と相互作用し,それらの安定性にとって重要である.
結論:
- BAP1は,重要な表遺伝子調節体 (HCF-1,OGT) の安定化に重要な役割を果たしています.
- 成人マウスのBAP1機能の喪失は,MDSを再現し,腫瘍抑制作用を示唆する.
- ASXL/BAP1複合体は,慢性ミエロモノサイト性白血病 (CMML) の抑制に重要な役割を果たす可能性がある.
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