マウスのゲノム変異とその現象型と遺伝子調節への影響

Thomas M Keane¹, Leo Goodstadt, Petr Danecek

¹The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1HH, UK.

Nature

|September 17, 2011

まとめ

研究者らは17種の親生ネズミの遺伝子配列を解析し,10倍もの遺伝子変異を発見した. この研究は,マウスゲノミクス,遺伝子発現,特性の多様性に関する理解を深め,将来の機能研究への道を開く.

科学分野:

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.
バイオインフォマティックス

背景:

実験用マウスは,生物医学研究における重要なモデル生物です.
以前の同性愛マウス株のゲノムデータは限られており,包括的な遺伝分析を妨げていました.

研究の目的:

17種の同卵性ネズミの高品質のゲノム配列を生成する.
これらの株内の包括的な遺伝子変異群を特定する.
遺伝子変異が遺伝子発現と特性の継承に及ぼす機能的影響を調査する.

主な方法:

17種の同性愛マウスの全ゲノム配列解析.
変数呼び出しと注釈.
アレル特異的な発現と定量的な特質ロシ (QTL) の分析.

主要な成果:

過去の研究と比較して,ほぼ10倍以上の遺伝子変異を特定しました.
トランスクリプトの少なくとも12%が組織特異的な発現バイアスを示すことを発見した.
718 QTLでの機能的変異の特徴付け,分子性質の変動と遺伝子効果の大きさに相対的な位置を示しています.

結論:

生成されたゲノム配列は,マウス研究コミュニティにとって貴重なリソースを提供します.
これらのデータは,マウスのゲノタイプ-フェノタイプ関係のより深い理解を可能にします.
この研究は,この重要なモデル生物における機能的ゲノミクスの新しい段階を開始します.

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