人間 の アミラーゼ の 場所 の 再構成 は,現代 の 変化 を 引き起こし て いる 古代 の 複製 を 明らかに し て い ます
Feyza Yilmaz1, Charikleia Karageorgiou2, Kwondo Kim1
1The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
まとめ
人間の唾液アミラーゼ遺伝子 (AMY1) の複製数は変化し,より多くの複製は粉豊富な食事に関連しています. 古代DNAは,800,000年前に存在した一般的な3コピーのAMY1ハプロタイプを明らかにし,ヨーロッパの農民ではコピーの数が増加しています.
科学分野:
- 人間の進化遺伝学
- 分子人類学
- 集団遺伝学
背景:
- 人間の唾液アミラーゼ遺伝子 (AMY1) の複製数は,食中の粉摂取量と関連しています.
- AMY1の進化分析には,正確なハプロタイプ変異マップが不可欠です.
- 以前の研究では,包括的な進化の洞察を得るために,配列解析ハプロタイプデータが欠けていました.
研究 の 目的:
- ヒトAMY1遺伝子の核酸解像度ハプロタイプ変異マップを作成する.
- AMY1複製数の変化に関する進化史と選択圧力を調査する.
- AMY1複製数の変化がヒトの食生活への適応に与える影響を調べる.
主な方法:
- 98人のヒトで核酸解像度で30の異なるAMY1ハプロタイプを特定した.
- ネガティブ・セレクション下でのコード配列の進化の分析
- 古代ホミニンと古代ヒトのゲノム解析
- AMY1遺伝子再配列における非アレル同類再結合の調査.
- 古代ヨーロッパの農民集団におけるAMY1複製数の変動の頻度分析
主要な成果:
- 核酸解像度を持つ構造的に異なる30のAMY1ハプロタイプを特定した.
- AMY1のコード配列は ネガティブ・セレクションで進化します
- AMY1ハプロタイプは少なくとも80万年前に発生した.
- 繰り返し発生する非アレル同種再結合は,AMY1複製数の再配置を誘発する.
- 過去4000年の間,欧州の農家におけるAMY1複製数の増幅の頻度が増加した.
結論:
- AMY1遺伝子は,少なくとも80万年前に遡る保存された3コピーのハプロタイプで,深い進化の歴史を持っています.
- 欧州の農家におけるAMY1複製数の拡大は,食中の粉の増加への適応反応を表している可能性が高い.
- AMY1ハプロタイプの変化を理解することは,食事の変化に対する人間の適応に対する重要な洞察を提供します.
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