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因子IXプロモーターのC/EBP結合部位の破壊は,B型血友病と関連している

M Crossley¹, G G Brownlee

¹Sir William Dunn School of Pathology, University of Oxford, UK.

|May 31, 1990

まとめ

特定の変異を持つB型血友病患者は,因子IXの発現が増加したため,思春期後に改善します. +13の突然変異は,CCAAT/エンハンサー結合タンパク質 (C/EBP) の結合を妨げ,因子IXの遺伝子転写に影響を与える.

科学分野:

遺伝学遺伝学とは
分子生物学は分子生物学である.
血液学ヘマトロジ

背景:

ヘモフィリアB (クリスマスの病気) は,因子IXの遺伝子変異によって引き起こされるX関連遺伝性出血障害です.
ヘモフィリアBレイデン症は稀なサブタイプで,患者は思春期以降に症状が改善し,因子IXのレベルが著しく上昇します.

研究の目的:

ファクターIX遺伝子の転写開始部位付近の突然変異が遺伝子発現にどのように影響するかを調査する.
レイデン患者におけるファクターIXの調節に関与する転写因子を特定する.

主な方法:

転写因子に因子IX遺伝子のプロモーター領域に結合する検査.
C/EBP結合と機能を研究するために,変異分析と遺伝子トランザクティベーションアッセイを使用しました.

主要な成果:

核因子-1肝臓 (NF1-L) とCCAAT/強化結合タンパク質 (C/EBP) の結合部位が因子IXプロモーターで特定されました.
特定の変異 (AからGまで+13) がC/EBP結合を廃止することが判明しました.
この変異は,C/EBPがファクターIXプロモーターをトランザクティベーションするのを妨げました.

結論:

この研究は,ヒトにおけるC/EBP結合部位を破壊する最初の自然変異を特定した.
素因子IXの遺伝子発現を調節するC/EBPの重要な役割と,ヘモフィリアBレイデンにおけるその重要性を示しています.

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