胚形成中の発現レベルと同型多様性を調節する遺伝子変異種
Enrico Cannavò1, Nils Koelling2, Dermot Harnett1
1European Molecular Biology Laboratory (EMBL), Genome Biology Unit, D-69117 Heidelberg, Germany.
Nature
|December 27, 2016
まとめ
遺伝的変異は胚の発達中の遺伝子発現に大きく影響し,転写とRNA処理の両方に影響を与えます. 研究者は,ドロソフィラの異なる発達段階における遺伝子調節に影響を与える何千もの遺伝的変異を特定しました.
科学分野:
- 発達生物学
- 遺伝学
- ゲノミクス
背景:
- 胚の発達は精密な遺伝子発現パターンに依存しますが,個々の遺伝的多様性はこれらのプロセスに影響を与えます.
- 前回の発現量的な特徴の場所 (eQTL) についての研究では,遺伝的多様性が細胞培養と成人の組織における遺伝子発現に影響を及ぼすことが示されましたが,胚形成におけるその役割はあまり理解されていません.
研究 の 目的:
- メタゾア胚の発達中の転写および転写後の調節に対する遺伝的変異の影響を調査する.
- 胚形成の過程で遺伝子発現を制御する特定の遺伝的変異と規制メカニズムを特定する.
主な方法:
- 複数の発達段階における80種の同種ドロソフィラ野生種における遺伝子発現と3'RNA処理を分析した.
- ドロソフィラの短絡不均衡ブロックによって可能になった高解像度マッピングを用いて,因果的な遺伝的変異を特定した.
- 遺伝子発現レベルとRNA処理イベントの両方について定量的な特性の位置 (QTL) を特定した.
主要な成果:
- 発達段階に特化した数千の共有QTLを発見し,胚形成中の遺伝子発現に対する広範な遺伝子制御を明らかにした.
- 発達の強化剤における因果変異と,遺伝子発現の変化を緩衝するアレル相互作用が解明された.
- 3'RNA処理に影響を与えるQTLを特定し,トランスクリプトの異形多様性を駆動し,3'翻訳されていない領域の長さを変化させる新しいモチーフを発見した.
結論:
- 発達段階は遺伝子調節に対する遺伝的変異の影響を大きく調整する.
- 遺伝的変異は,増強剤活動とRNA処理を含む複数のメカニズムを通じて胚の遺伝子発現に影響を与えます.
- 複雑な規制ネットワークとバッファリングメカニズムは 遺伝的多様性にもかかわらず 胚形成中に堅固な遺伝子発現パターンを保証します
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