Homeobox Gene Six3 in Forebrain and Visual System Development

描述(申请人提供)：先天性视网膜异常，如视网膜退行性疾病，在全球数百万人中导致不同程度的不可逆转视力丧失。尽管我们对视网膜发育的了解最近的进展促进了筛查方案的使用，以检测与这些眼部疾病相关的基因突变，但目前还没有可用的治疗方法。保守的转录因子网络对眼睛的形成是必不可少的。含有同源异型盒的基因Six3是调节视觉系统发育的复杂网络的成员之一。从发育中的小鼠眼球中有条件地移除Six3足以阻止NR规范；这一结果证明了Six3在脊椎动物视网膜发育中的关键作用。本申请中提出的工作建立在我们之前的发现和我们生成的鼠标模型的基础上，以扩展我们对导致视觉系统形成的过程的知识。

DESCRIPTION (provided by applicant): Congenital retina abnormalities such as retinal degenerative diseases cause varying degrees of irreversible vision loss in millions of people worldwide. Although recent advances in our understanding of retinal development have facilitated the use of screening protocols to detect mutations in genes associated with those ocular diseases, no therapeutic approach is yet available. A conserved network of transcription factors is essential for eye formation. The homeobox-containing gene Six3 is one of the members of that complex network that regulates visual system development. Conditional removal of Six3 from the developing mouse eye field is sufficient to arrest NR specification; a result demonstrating the critical role of Six3 during vertebrate retina development. The work proposed in this application builds on our previous findings and our generated mouse models to expand our knowledge about the processes leading to the formation of the visual system.