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ネズミのピンクアイの希釈部とヒトのII型眼皮アルビニズムのための遺伝子です
E M Rinchik1, S J Bultman, B Horsthemke
1Biology Division, Oak Ridge National Laboratory, Tennessee 37831.
Nature
|January 7, 1993
まとめ
P遺伝子は,ネズミのピンクアイの希釈 (p) 遺伝子のヒトの同型であり,統合膜トランスポーターとして識別されています. その発現の変化は,色素と相関しており,変異は,プラダー・ウィリー症候群とエンジェルマン症候群における眼皮性アルビニズムと低色素化に関連しています.
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.
- 皮膚科 皮膚科について
背景:
- ネズミのピンクアイの希釈 (p) 部位は,エウメラニン産生とメラノソーム形態学に影響することによって,皮膚,目,毛皮の色素化に影響を与えます.
- マウスp遺伝子の変異により,黒茶色色素 (エウメラニン) が減少し,黄赤色素 (フェオメラニン) に最小限の影響を与える.
研究 の 目的:
- マウスp遺伝子のヒト同型を特定し,色素化および関連する疾患におけるその役割を調査する.
- マウスモデルとヒトの遺伝条件におけるヒトP遺伝子の発現パターンを分析する.
主な方法:
- 人間の補完DNA (DN10) は,ヒトのP遺伝子,マウスのp遺伝子と同型であるヒトP遺伝子を識別するために使用されました.
- 遺伝子発現パターンとメッセンジャーRNA (mRNA) サイズを,様々なマウスミュータントとリバータントで分析した.
- 人間のP遺伝子の染色体位置がマッピングされ,ヒト遺伝症候群との関連が調査されました.
主要な成果:
- 人間のP遺伝子は,マウスの色素化現象型と相関する発現パターンを持つ,統合膜トランスポーターとして特定されました.
- 特定のマウス変異体 (p(un)) で異常な大きさのmRNAが検出され,それはリバータントで正常化しました.
- 人間のP遺伝子は染色体段15q11-q13に位置し,プラダー・ウィリー症候群とエンジェルマン症候群では削除された領域であり,オキュロキュタヌスアルビニズムの症例で変異が発見されました.
結論:
- 人間のP遺伝子は,マウスのp遺伝子と類似して,色素の重要な調節因子である.
- P遺伝子の切除または変異は,プラダー・ウィリー症候群,エンジェルマン症候群,眼皮アルビニズムに関連する低色素化に関連しています.
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