初期 の 人 の 胚 の 細胞 の 動態 に 異なっ た 性質 を 示し て いる 身体 的 変異
Young Seok Ju1,2, Inigo Martincorena1, Moritz Gerstung1,3
1Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.
Nature
|March 23, 2017
まとめ
初期のヒト胚の変異は 細胞分裂ごとに3つの塩基置換率で起こります これらのモザイク変異は 発達系統と 成人組織への非対称な細胞貢献の洞察を示しています
科学分野:
- 遺伝学
- 発達生物学
- ゲノム医学
背景:
- 体細胞は生涯にわたって 変異を蓄積します
- 早期の胚性変異は 遺伝疾患を引き起こし 癌に罹患し 子孫に伝染する可能性があります
- 初期胚の体内変異の理解は,初期胚の染色体異常が知られているにもかかわらず,限られている.
研究 の 目的:
- ヒトの初期胚性変異を特定し特徴づけること
- ヒトの胚形成の初期における 変異率を推定する
- 成人組織への細胞の貢献を理解する.
主な方法:
- 241人の成人の全ゲノム解析です
- 163の初期胚変異を特定した
- 変異シグネチャーの分析と 発達系統の再構築
主要な成果:
- 初期のヒト胚形成では,細胞ごとに約3つの塩基置換変異が起こります.
- 特定された変異は主に2つの既知の変異シグネチャーに起因する.
- 証明された非対称的貢献 (約. 早期の細胞複製の娘細胞と成人の血液の比率です.
結論:
- 初期のヒトの胚形成には 重要な突然変異の蓄積が伴う
- モザイク型変異は 初期の細胞系統と 成人組織への貢献について 洞察を与えてくれます
- 非対称な細胞分裂パターンは人間の発達初期に顕著であり,成人の組織構成に寄与する.
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