向突变揭示了本地基转录因子Shox2在鼻腔和心律发育中的基本功能
Rüdiger J Blaschke1, Nathan D Hahurij, Sanne Kuijper
1Human Genetics, University of Heidelberg, Heidelberg, Germany.
Circulation
|March 21, 2007
概括
宿主体转录因子Shox2对于心脏节拍区域的发展至关重要. 在小鼠中,Shox2缺乏导致严重的心脏缺陷和胚胎死亡率,突出其在心脏发育中的关键作用.
科学领域:
- 发育生物学 发展生物学
- 心血管生物学 心血管生物学
- 遗传学 是一个遗传学.
背景情况:
- 了解心律失常的分子路径对于心律失常研究至关重要.
- 这些过程的发展结构和目标模型定义不佳.
- 家庭主体转录因子Shox2在心肌侧静脉中表达受限.
研究的目的:
- 为了研究Shox2在心脏发育中的体内功能.
- 确定Shox2在阴耳节点区域形成中的作用.
主要方法:
- 产生的Shox2-突变小鼠的线条.
- 在Shox2-/-胚胎中分析胚胎死亡率和心脏形态.
- 对连素和Nkx2.5表达的评估.
- 在斑马鱼胚胎中的功能研究.
主要成果:
- 肖克斯2-/-胚胎表现出胚胎死亡率 (11.5-13.5 dpc).
- 观察到严重的阴道静脉心肌缺血,包括阴道节点区域和静脉.
- 异常表达的连接素40,连接素43和Nkx2.5发生在鼻腔节点区域.
- 在斑马鱼胚胎中,Shox2缺乏会损害节律功能.
结论:
- Shox2在心肌侧腔静脉的发展中起着至关重要的作用.
- Shox2对于招募形成心肌节点区域的心肌组织至关重要.
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