ヒトの遺伝子発現における全ゲノム幅の変異の遺伝子分析
Michael Morley1, Cliona M Molony, Teresa M Weber
1Department of Pediatrics, University of Pennsylvania, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Nature
|July 23, 2004
まとめ
遺伝的要因はヒトの遺伝子発現変異に大きく影響する. この研究では,大家族における全ゲノム規模のリンク分析を使用して,1,000以上の発現フェノタイプの遺伝的決定因子をマッピングしました.
科学分野:
- 遺伝学 遺伝学とは
- ゲノミクスゲノミクスとは
- 分子生物学は分子生物学である.
背景:
- 遺伝子の発現における自然な変異は,ヒトにおける重要な遺伝的特徴である.
- 遺伝子発現変異の遺伝的基礎を理解することは,ヒト遺伝学研究にとって極めて重要です.
研究 の 目的:
- ヒトにおける定量的遺伝子発現特質 (発現フェノタイプ) を制御する遺伝的決定因子 (ロシ) を特定する.
- これらの遺伝子調節体の染色体位置をマップする.
主な方法:
- マイクロアレイ技術を活用して,3,554の遺伝子の遺伝子発現レベルを測定しました.
- 14の大家族で全ゲノムにわたるリンク分析を行い,発現フェノタイプに関連した遺伝的位置を特定しました.
主要な成果:
- 約1000の異なる発現フェノタイプについて,有意な関連性の証拠が見つかりました.
- cisとtrans作用のレギュレータロキュアが特定され,trans作用のロキュアがより一般的であった.
- 複数の発現フェノタイプが収束する規制ホットスポットを発見し,共有された遺伝的コントロールを示しています.
- 同じ規制領域内の遺伝子の発現レベルにおける有意な相関が観察されました.
結論:
- この研究では,ヒトの遺伝子発現変異に影響を与える遺伝的決定因子を成功裏にマッピングしました.
- リンク分析と組み合わせたマイクロアレイベースのフェノタイプ化は,遺伝子発現レギュレータの遺伝的マッピングに有効です.
- 遺伝子発現は,複数の遺伝因子によって制御され,しばしばトランスで作用し,規制ホットスポットにクラスタ化されます.
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