在RNA颗粒组件TDRD7中的突变会导致白内障和绿内障
Salil A Lachke1, Fowzan S Alkuraya, Stephen C Kneeland
1Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Science (New York, N.Y.)
|March 26, 2011
概括
RNA颗粒 (RGs) 对于基因表达至关重要. 突变TDRD7导致白内障和其他发育问题,揭示了RGs.
科学领域:
- 发展生物学 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:
- 精确的基因表达控制对于脊椎动物的发育至关重要.
- 通过RNA颗粒 (RGs) 的转录后调节是不太了解的,特别是在器官生成中.
- 在TDRD7中功能丧失突变与儿科白内障有关.
研究的目的:
- 研究TDRD7和RNA颗粒在脊椎动物器官生成中的作用.
- 阐明TDRD7在镜头开发和RG调节中的功能.
- 了解TDRD7突变在人类和小鼠模型中的后果.
主要方法:
- 对患有儿科白内障和TDRD7突变的人类病例的分析.
- 产生和分析Tdrd7无糖性小鼠.
- 在透镜纤维细胞中对TDRD7蛋白位址和相互作用的表征.
- 与TDRD7与特定镜片mRNA和STAU1-核糖核蛋白 (RNP) 的共同免疫沉.
主要成果:
- 在小鼠中,Tdrd7的无糖性导致白内障,绿内障和精子生成停止.
- TDRD7是一种Tudor域RNA结合蛋白,在透镜纤维细胞内的不同RG中发现.
- TDRD7与STAU1-RNP和特定的镜片mRNA相互作用.
- TDRD7对于对透镜发育和RG功能至关重要的mRNAs的转录后控制至关重要.
结论:
- TDRD7在转录后基因调节中起着至关重要的作用,对透镜发育至关重要.
- RNA颗粒参与脊椎动物的器官生成.
- TDRD7突变对眼睛和生殖健康有重大影响.
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