適応的な配列の分散は,ヒトにおける新しい神経発達増強剤を偽造した

Riley J Mangan¹, Fernando C Alsina¹, Federica Mosti¹

¹Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA.

Cell

|November 24, 2022

まとめ

ヒトとネアンデルタール人の分裂前に急速に進化した領域 (HAQER) を新たに特定した. これらの領域は神経発達と関連しており人間の脳には独特の強化物質があります

科学分野:

ゲノミクス
人間の進化
神経科学

背景:

ヒト特有の特徴は,保存されたゲノム領域で研究されることが多い.
このアプローチは,以前は中立だった地域から進化した機能的要素を無視しています.
急速なゲノム進化を理解することは人間のユニークさの鍵です

研究の目的:

ヒトの系統で急速に進化したゲノム領域を特定し特徴づけること
ヒトの発達と病気におけるこれらの地域の機能的重要性を調査する.
ヒト特有のゲノム要素の進化動態を探求する.

主な方法:

急速に進化した領域 (HAQERと呼ばれる) を特定するためのヒトゲノム配列の分析.
クロマチンの状態と疾患に関連する遺伝的変異の調査
マルチプレックス,単細胞 in vivo 増強剤の測定法を使用して増強剤の活性性を評価する.

主要な成果:

人間とネアンデルタール人の分裂の前に素早く進化した領域 (HAQER) を特定した.
HAQERは,神経発達および胃腸組織における二価クロマチンの状態の強化を示しています.
発達中の脳皮質のHAQERでホミニン特有の強化物質を発見した.
HAQERで神経発達の疾患に関連した遺伝子の変異を発見しました

結論:

HAQERはヒトの進化において急速に適応したゲノム領域の独特なクラスを表しています
これらの領域は特に脳内の独特の強化物質の生成に役割を果たしました
プレイオトロプ的制約の欠如と高い変異率はHAQERの適応を容易にし,病気の感受性を潜在的に増加させた.

キーワード:

ハッカー比較ゲノミクス人間が加速した地域人類の進化人間遺伝学神経発達

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