APCDD1は,遺伝性低トリコシスシンプレックスで変異した新しいWnt阻害剤です

Yutaka Shimomura¹, Dritan Agalliu, Alin Vonica

¹Department of Dermatology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, VC15 204A, New York, New York 10032, USA.

Nature

|April 16, 2010

まとめ

希少な脱毛症である遺伝性低毛症は,APCDD1遺伝子の変異と関連しています. この遺伝子は通常,髪の成長に不可欠なWnt信号伝達を阻害します.

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.
発達生物学発達生物学とは

背景:

遺伝性低毛症シンプレックス (遺伝性低毛症シンプレックス) は,珍しい自己相性支配的脱毛状態である.
毛の小型化によって特徴付けられています.

研究の目的:

遺伝性低血圧症の遺伝的原因を特定するために.
識別された遺伝子が髪の成長とWntシグナル伝達における役割を調査する.

主な方法:

遺伝的リンク分析により,疾患の位置をマッピングします.
変異を特定するための遺伝子配列決定.
インビトロ相互作用研究.
細胞培養,チキの神経系,そしてXenopus胚における機能的研究.

主要な成果:

遺伝性低トリコシスシンプレックスの新しい場所が染色体18p11.22.22にマッピングされました.
変異 (Leu9Arg) が発生したアデノマトーシスポリポジスダウンレギュレート1 (APCDD1) 遺伝子は,罹患家族で確認されました.
APCDD1は,Wntシグナル伝達を阻害する毛皮に発現する膜結合グリコタンパク質です.
特定された突然変異は,APCDD1の処理と機能を妨害し,おそらく支配的陰性で作用する.

結論:

APCDD1はWntシグナル伝達経路の新しい阻害体であり,人間の髪の成長に重要な役割を果たしています.
APCDD1の変異は遺伝性低トリコシスシンプレックスを引き起こす.
Wnt信号伝達におけるAPCDD1の役割は,他の生物学的プロセスへの関与を示唆しています.

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