6,515のエクソムの分析により,ヒトのタンパク質をコードするほとんどの変異体の最近の起源が明らかになりました
Wenqing Fu1, Timothy D O'Connor, Goo Jun
1Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. wqfu@u.washington.edu
Nature
|December 4, 2012
まとめ
ヒトのタンパク質をコードする変異のほとんどは,過去1万年以内に,最近発生した. 病気の遺伝子は,より若く,有害な単一ヌクレオチド変種 (SNVs) を不釣り合いに携えており,人間の進化と疾患遺伝子の発見に影響を与えています.
科学分野:
- 人間の進化遺伝学
- 人口遺伝学 人口遺伝学
- ゲノミクスゲノミクスとは
背景:
- 人間の進化史を理解するには,遺伝子変異の年代測定が必要である.
- 最近の人口増加は,多くの変異が進化的に若いことを示唆しています.
- 変異年齢を特定することは,病気の遺伝子発見を助けます.
研究 の 目的:
- 人種集団における突然変異の年齢分布を定量的に評価する.
- 最近の人類の歴史が遺伝子変異に与える影響を調査する.
- 病気の遺伝子発見のための洞察を提供するために.
主な方法:
- 6,515人のヒトの15,336個の遺伝子を再配列化しました.
- 1,146,401 個の自己相単核酸変種 (SNV) の年齢を推論した.
- 祖先集団と遺伝子タイプにおける変異年齢と頻度の比較.
主要な成果:
- タンパク質をコードするSNVの約73%と有害なSNVの約86%は,過去5,000〜10,000年の間に発生しました.
- 有害なSNVは,他の遺伝子と比較して,疾患遺伝子の平均年齢が若い.
- ヨーロッパ系アメリカ人は,アフリカ系アメリカ人と比べて,重要な遺伝子の有害な変異の過剰を示した.
結論:
- 最近の人類の歴史は,有害なSNVの現在の負担を大きく形作りました.
- 変異年齢は,ヒトの遺伝的多様性と病気を理解する上で重要な要因です.
- 発見は,疾患遺伝子の発見の努力における変異の優先順位付けのための実用的なガイドラインを提供します.
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