人間とチンパンジーの間で共有された古代のバランス選択の複数の例
Ellen M Leffler1, Ziyue Gao, Susanne Pfeifer
1Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA. emleffler@uchicago.edu
まとめ
自然選択は,何百万年にもわたって遺伝的多様性を維持することはめったにありません. この研究では,古代のバランシング・セレクションがヒトの遺伝的変異を形づくったことが判明し,特に宿主-病原体相互作用に関連する遺伝子はそうであった.
科学分野:
- 進化遺伝学の進化遺伝学について
- ヒューマンゲノミクス (ヒトゲノミクス)
- 集団遺伝学 人口遺伝学
背景:
- 長い期間にわたって遺伝的多様性を維持するバランシング・セレクションは,進化史において珍しいと考えられています.
- 遺伝的多様性を保全するメカニズムを理解することは,種の適応を理解するために極めて重要です.
研究 の 目的:
- ゲノム全体にわたる長寿均衡選択の事例を特定する.
- 人間とチンパンジーの間で共有される遺伝的多様性を形作る進化的力を調査する.
主な方法:
- ヒトとチンパンジーの間で共有されている単一核性子ポリモルフィズム (SNPs) とハプロタイプのための全ゲノムスキャン.
- 祖先のポリモルフィズムを示すためのノンコーディングとコーディング領域の分析.
- 特定遺伝子機能のための特定領域の濃縮分析.
主要な成果:
- ヒトとチンパンジーの間で共有される分離ハプロタイプを持つ125のゲノム領域を特定し,主要な組織適合性複合体を超えた.
- 6つの地域で祖先のポリモルフィズムが続いている証拠が見つかりました.
- 膜グリコプロテインおよび関連するコーディングポリモルフィズムのための共有ハプロタイプ領域の有意な濃縮が観察されました.
結論:
- 古代のバランシング・セレクションは,ヒトの遺伝的多様性を形成する上で重要な役割を果たしてきた.
- 宿主-病原菌の相互作用に関与する遺伝子は,この古代の均衡選択によって頻繁に標的にされます.
- この発見は,長期のバランスセレクションが極めて稀であるという考えに異議を唱える.
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