Developing a Zebrafish Model of NF1 for Structure-Function Analysis and Identification of Modifier Genes

摘要: Abstract : The primary goal of this project is to develop a zebrafish model the autosomal dominant genetic disorder type I neurofibromatosis (NF1). This very common, affecting approximately 1 in 3000 live births, and results from mutations NF1 gene. A disease will be particularly useful furthering our understanding pathophysiology allow application high throughput strategies screen libraries chemical compounds identify small molecules that may prove efficacious modulating NF1-associated phenotypes. also for rapid cost-effective structure-function analysis neurofibromin, large protein product Zebrafish rapidly are transparent throughout early development allowing easy visualization many developing tissues, including cardiovascular nervous systems. In addition, availability transgenic reporter lines express fluorescent proteins under control tissue-specific promoters allows real-time complex developmental processes. system tenable forward screens, which identification enhancers suppressors phenotypes an unbiased fashion. Prior efforts funded by award, orthologues human gene had not been described or characterized. involves collaboration two established groups coordinate exploiting important disease.