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Hedgehog signalling in limb and craniofacial development and disease

四肢和颅面发育及疾病中的刺猬信号传导

基本信息

批准号：
nhmrc : 401683
负责人：
A/Pr Carol Wicking
金额：
$ 32.98万
依托单位：
The University of Queensland
依托单位国家：
澳大利亚
项目类别：
NHMRC Project Grants
财政年份：
2007
资助国家：
澳大利亚
起止时间：
2007-01-01 至 2008-12-31
项目状态：
已结题

来源：
https://researchdata.edu.au/hedgehog-signalling-limb-development-disease/95327
关键词：
Hedgehog signalling limb craniofacial development

项目摘要

Anomalies of the face and limbs are amongst the most common features of human birth defects, and their frequent association suggests that the same genes are involved in governing the development of the limbs and face during embryogenesis. We have used a genomics-based approach to identify genes involved in limb development based on their alteration in a mouse model which develops extra fingers and toes. Defects in this mouse result from changes in Gli3, a gene which is known to be important in both limb and face development. Based on the organs in which our genes of interest are active, we believe that they will also play key roles in embryonic development of the limbs, face and other organs. We now plan to investigate the regulation of a subset of these genes based on analysis in mouse models of limb and face development. In addition, we have chosen to further analyse the function of a completely novel gene we have identified which our preliminary studies suggest may play a role in the normal development of the lip and palate. These studies have the potential to shed light on the processes governing how organs develop, as well as on the molecular basis of common birth defects such as polydactyly (extra fingers and toes) and cleft palate.

面部和肢体的异常是人类出生缺陷中最常见的特征之一，它们之间的频繁联系表明，在胚胎发育过程中，相同的基因参与控制四肢和面部的发育。我们使用了一种基于基因组学的方法来识别与肢体发育有关的基因，这是基于它们在一个发育出额外手指和脚趾的小鼠模型中的变化。这只老鼠的缺陷是由Gli3基因的变化引起的，Gli3基因在肢体和面部发育中都很重要。基于我们感兴趣的基因活跃的器官，我们相信它们也将在四肢、面部和其他器官的胚胎发育中发挥关键作用。我们现在计划通过对小鼠肢体和面部发育模型的分析来研究这些基因的一个子集的调控。此外，我们选择进一步分析我们已经确定的一种全新基因的功能，我们的初步研究表明，这种基因可能在唇和腭的正常发育中发挥作用。这些研究有可能揭示器官发育的过程，以及常见出生缺陷（如多指畸形（多指和多趾）和腭裂）的分子基础。