トライソミー21への用量補償を翻訳する

Jun Jiang¹, Yuanchun Jing, Gregory J Cost

¹Department of Cell and Developmental Biology, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, Massachusetts 01655, USA.

Nature

|July 19, 2013

まとめ

研究者は,ダウン症候群の幹細胞に余分な染色体21を沈黙させるために遺伝子編集を使用した. このアプローチは,細胞の欠乏を成功裏に逆転させ,ダウン症候群の潜在的な新しい治療法を提供しました.

科学分野:

遺伝学遺伝学とは
幹細胞生物学幹細胞生物学
ゲノム医学はゲノム医学である.

背景:

ダウン症候群は,トリソミー21によって引き起こされ,重要な医療的および社会的課題を提示します.
トライソミー21における遺伝子不均衡は,細胞病理に寄与する.

研究の目的:

XIST遺伝子を操作することで,ダウン症候群における遺伝子の不均衡を修正できるかどうかを調査する.
トライソミー21と潜在的な治療戦略を研究するためのモデルを開発する.

主な方法:

ダウン症候群の多能幹細胞のゲノム編集のために亜鉛指核酸を用いた.
誘導可能なXISTトランスゲンを21染色体上のDYRK1A位置に挿入しました.
ヘテロクロマチンの改変,転写サイレンシング,DNAメチレーションを分析した.

主要な成果:

XIST誘発サイレンシングで"染色体21のバール体"を成功裏に作成しました.
増殖と神経ローゼット形成の欠陥の急速な逆転が観察されました.
遺伝的騒音なしでトリソミー21の病理を研究するためのシステムを確立しました.

結論:

余分な染色体21の遺伝子サイレンシングは,in vitroで実現可能である.
このアプローチは,ヒト染色体不活性化とトリソミー21の研究のモデルを提供します.
ダウン症候群の"染色体療法"への潜在的な第一歩を示しています.

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