線維性コラーゲン遺伝子であるCol11a1は,骨格形態変異に不可欠である

Y Li¹, D A Lacerda, M L Warman

¹Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115.

Cell

|February 10, 1995

まとめ

マウスにおけるコンドロディスプラジア (cho) 変異は,重度の軟骨の欠陥と胚の死亡を引き起こす. この研究は,チョウ変異を軟骨構造と軟骨細胞組織にとって重要なコラーゲンXIと関連付けています.

科学分野:

遺伝学遺伝学とは
発達生物学発達生物学とは
バイオケミストリーバイオケミストリー

背景:

マウスにおける自己相性後退性軟骨分裂症 (cho) 変異は,重度の骨格および軟骨の異常を伴う胚の致死につながる.
罹患した新生児マウスは,短くなり,四肢の骨が広がり,肋骨,下,気管の変形を呈する.

研究の目的:

コンドロディスプラシア (ホー) 変異の遺伝的基礎を調査する.
軟骨の発達と軟骨細胞の分化におけるコラーゲンXIの役割を決定する.

主な方法:

リンク分析は,チョー遺伝子をマッピングするために使用されました.
軟骨コラーゲンXI mRNAのアルファ1 (XI) 鎖の分子解析を行った.

主要な成果:

チョ遺伝子と軟骨コラーゲンXIのアルファ1 (XI) 鎖の遺伝子は,染色体3の同じ領域にマッピングされた.
アルファ1 (XI) mRNAの削除により,読み取りフレームのシフトと早期停止コドンが発生し,コラーゲンXIが影響を受けた遺伝子であると特定されました.
機能的なコラーゲンXIが欠けていたマウスは,異常な軟骨のコラーゲン繊維と軟骨細胞組織障害を示した.

結論:

コラーゲンXIは,軟骨のコラーゲン繊維の適切な形成と軟骨の構造的整合性に不可欠です.
正常な軟骨細胞の分化と成長板内の空間的組織は,細胞外マトリックスにXI型コラーゲンの存在に決定的に依存しています.

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