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ネズミのホメオボックス遺伝子HOX-1.5の標的の破壊によって生じる,地域的に制限された発達障害
1Howard Hughes Medical Institute, Department of Human Genetics, University of Utah School of Medicine, Salt Lake City 84112.
Nature
|April 11, 1991
まとめ
マウスにおけるホメオボックス遺伝子HOX-1.5の破壊は,重度の発達障害と早期死亡につながる. これらのHOX-1.5ノックアウトマウスは,ヒトのディジョージ症候群に似た症状を発現しています.
科学分野:
- 発達生物学 発達生物学とは
- 遺伝学 遺伝学とは
- 分子生物学は分子生物学である.
背景:
- ホーメオボックス遺伝子は,例えばhox-1.5は,胚の発達において重要な役割を果たします.
- ノックアウトモデルによる遺伝子機能の理解は,発達経路の解読に不可欠です.
研究 の 目的:
- ホメオボックス遺伝子 (HOX-1.5.5.) の機能を調査する.
- マウスにおけるhox-1.5遺伝子障害の発達上の影響を特徴づけるために.
主な方法:
- ネズミの胚由来幹細胞の遺伝子ターゲティングで,HOX-1.5ノックアウトを作成します.
- ホモジゴスなホックス-1.5-/ホックス-1.5-マウスの表型異常に対する分析.
主要な成果:
- ホモジゴスホックス-1.5-/ホックス-1.5-マウスは,胚の致死性または生前死亡を示す.
- 主な異常は,軟血症,甲状腺外側,甲状腺および下組織の減少,喉の欠陥,心臓および動脈の異常,頭蓋骨の異常を含む.
- ヘテロジゴスなマウス (hox-1.5+/-) は現象的に正常である.
結論:
- hox-1.5遺伝子はマウスの正常な発達に不可欠である.
- ホックス-1.5ノックアウトマウスの観察されたフェノタイプは,ヒトのディジョージ症候群に非常に似ており,この遺伝子の保存された役割を示唆しています.
- この研究は,ディジョージ症候群を調査するための貴重なマウスモデルを提供します.
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