クロマチン三次元相互作用は遺伝子発現に遺伝的影響を媒介する
O Delaneau1,2,3, M Zazhytska4, C Borel1,3
1Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
Science (New York, N.Y.)
|May 4, 2019
まとめ
遺伝的変異は,構造化されたクロマチンの領域内の規制要素の活動に影響を与えることによって,遺伝子調節に影響を与えます. これらのネットワークは遺伝子発現を制御し,遺伝子の影響を媒介する.
科学分野:
- ゲノミクス
- エピジェネティクス
- 人間 の 遺伝子
背景:
- 遺伝子発現とクロマチンの組織における 遺伝的多様性の役割を理解することは 人間のゲノム機能にとって極めて重要です
- 遺伝的多様性はヒトゲノムの構造と機能に影響する.
研究 の 目的:
- 遺伝子変異が遺伝子調節に 影響する方法を研究する
- 制御要素の活動,遺伝子発現,遺伝子変異,クロマチンの組織との関係を分析する.
主な方法:
- 317人の個体と2種類の細胞から,規制要素の活動,遺伝子発現,遺伝的変異を組み合わせたデータセットを利用した.
- シス調節ドメインとトランス調節ハブ内のクロモソーム内およびクロモソーム間構造を分析した.
- 地元 (TAD) とグローバル (クロマチン区) の核組織と相関する規制構造.
主要な成果:
- 規制活動の多様性は,シス規制領域とトランス規制ハブで構成されています.
- これらの構造は,ローカルとグローバルクロマチンの組織を反映しています.
- 遺伝子発現と共発現を制御する細胞型特異的な制御ネットワークが特定されました.
結論:
- クロマチンの組織構造は 調節活動と遺伝子発現ネットワークです
- 遺伝子変異が遺伝子に与える影響は 構造化された規制ネットワークを通して媒介されます
- この研究は遺伝子調節とヒトゲノム機能の 遺伝的基礎についての洞察を提供します
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