人間特有のNOTCH2NL遺伝子はノッチシグナル伝達と皮質神経生成に影響する
Ian T Fiddes1, Gerrald A Lodewijk2, Meghan Mooring1
1UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.
Cell
|June 2, 2018
まとめ
人間特有のNOTCH2NL遺伝子はノッチシグナル伝達を強化し,進化の過程で脳の大きさを促進します. 自閉症や統合失調症のような 神経発達障害に繋がっています
科学分野:
- 神経科学
- 進化生物学
- 遺伝学
背景:
- ネッチ・シグナリングは,放射性膠原幹細胞の増殖に不可欠であり,哺乳類の皮質のニューロン数を決定します.
- 進化の過程で人間の脳が拡大する遺伝的根拠は ほとんど不明です
研究 の 目的:
- 神経皮質の拡張におけるヒト特異遺伝子の役割と 神経発達障害との潜在的な関連を調査する.
主な方法:
- NOTCH2NLの遺伝子発現の分析
- NOTCH2NLアレルのノッチシグナル伝達への影響を評価するための機能研究.
- 1q21.1 消去/複製症候群における NOTCH2NL 遺伝子の関与の調査
主要な成果:
- 3つのヒト特異的なNOTCH2NLパラログは,放射性グリアで高度に発現しています.
- NOTCH2NLアレルはノッチシグナル伝達を差異的に強化し,ニューロンの祖先の分化に影響を与えます.
- 胎外NOTCH2NL発現は分化を遅らせ,NOTCH2NLの消去は分化を加速する.
- NOTCH2NL遺伝子は,マクロセファリー,マイクロセファリー,自閉症,統合失調症に関連する1q21.1デレーション/複製症候群のブレイクポイントに位置しています.
結論:
- 人間特有のNOTCH2NL遺伝子は,より大きな人間の新皮質の進化に寄与した可能性がある.
- NOTCH2NLが関与する1q21.1場所でのゲノム不安定は,再発性神経発達障害の基礎となる可能性があります.
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