FOXP2による中枢神経系の発達遺伝子のヒト特異的な転写制御

Genevieve Konopka¹, Jamee M Bomar, Kellen Winden

¹Program in Neurogenetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA. gena@alum.mit.edu

Nature

|November 13, 2009

まとめ

人間のFOXP2遺伝子である.

科学分野:

神経科学は神経科学である.
遺伝学遺伝学とは
進化生物学の進化生物学について

背景:

人間の脳の言語の進化と発達のためのシグナル伝達経路は不明である.
FOXP2 (フォークヘッドボックスP2) は,メンデルのスピーチおよび言語障害に関連した唯一の遺伝子です.
ニューロンにおけるヒト特異的なFOXP2アミノ酸変化の機能的影響は未試験である.

研究の目的:

FOXP2.2におけるヒト特異アミノ酸変化の機能的影響を調査する.
人間のFOXP2変異によって調節される遺伝子と経路を特定する.
人間の脳の発達と言語の進化におけるFOXP2の役割を調査する.

主な方法:

インビトロ転写調節アッセイ.
人間の脳とチンパンジーの脳におけるin vivo研究.
異なる発現遺伝子のネットワーク分析.

主要な成果:

FOXP2に含まれるヒト特異のアミノ酸は,その転写制御機能を変化させます.
人間の脳とチンパンジーの脳で異なる遺伝子発現パターンが観察されました.
FOXP2を調節する遺伝子の間の新しい関係は,ネットワーク分析によって特定されました.

結論:

人間特異的なFOXP2の変化は,転写調節に機能的な影響を及ぼします.
これらの発見は,FOXP2の進化が人間の脳の発達における関連性を支持しています.
特定されたFOXP2ターゲットは,人間の言語回路の発達と進化に決定的な役割を果たす可能性があります.

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