在缺乏转录因子AP-2的小鼠中发现神经管,骨和体壁缺陷
J Zhang1, S Hagopian-Donaldson, G Serbedzija
1Department of Biology, Yale University, New Haven, Connecticut 06511, USA.
Nature
|May 16, 1996
概括
转录因子AP-2对于哺乳动物发育至关重要. AP-2-null小鼠表现出严重的面和骨缺陷,证实了它在发育中的重要作用.
科学领域:
- 发育生物学是发展生物学.
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 转录因子AP-2 (激活增强剂结合蛋白2) 参与调节神经和上皮细胞发育所必需的基因.
- AP-2与人类乳腺癌细胞系中c-erbB-2的过度表达有关.
- 它在哺乳动物正常发育中的确切作用尚未完全阐明.
研究的目的:
- 研究AP-2在哺乳动物发育中的关键作用,通过创建和分析缺少AP-2的小鼠.
- 确定AP-2基因破坏对胚胎发育,特别是面结构的影响.
主要方法:
- 产生具有AP-2基因同胞性破坏的小鼠 (AP-2-null小鼠).
- 对AP-2-null小鼠的表型分析,包括对先天性缺陷和骨异常的形态检查.
- 胚胎分析以识别发育失败,如神经管闭塞和腺节发育.
主要成果:
- AP-2-null小鼠表现出多种严重的先天性缺陷,并且是不可活的,在出生时死亡.
- 关键缺陷包括无脑症,面异常和胸腔腹腔分裂症.
- 头部和干部的骨发育明显受损,骨变形或缺失.
- 早期的胚胎分析揭示了神经管闭合和结节发育的失败.
结论:
- AP-2 是哺乳动物面发育的一个不可或缺的调节器.
- 破坏AP-2基因导致一连串的发育失败,强调其基本重要性.
- 这项研究强调AP-2是预防头部和面部先天性形的关键遗传因素.
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