Resource to support Usher syndrome research

支持亚瑟综合症研究的资源

基本信息

批准号：
8332838
负责人：
Monte Westerfield
金额：
$ 30.8万
依托单位：
UNIVERSITY OF OREGON
依托单位国家：
美国
项目类别：
财政年份：
2011
资助国家：
美国
起止时间：
2011-09-14 至 2014-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8332838
关键词：
Affect Alleles American Animal Model Antibodies Biological Assay Blindness Cells Cloning Code Communities Deposition Development Disease Ear Engineering Enhancers Eye Gene Expression Gene Mutation Gene Targeting Genes Genetic Genetic Recombination Hair Cells Hearing Impaired Persons Hereditary Disease Human Information Centers International Labyrinth Lead Libraries Molecular and Cellular Biology Mutate Mutation Mutation Analysis Neuroglia Neurons Orthologous Gene Pathology Physiology Principal Investigator Process Protein Isoforms Protein Region Proteins Research Resources Retina Retinal Degeneration Retinitis Pigmentosa Sensory Hair Site System Techniques Terminator Codon Transgenes Transgenic Animals Transgenic Organisms Usher Syndrome Validation Vision Zebrafish Zinc Fingers animal resource cell type congenital deafness gene function genetic technology hearing impairment human disease loss of function loss of function mutation model organisms databases mutant nuclease promoter tool vector

项目摘要

DESCRIPTION (provided by applicant): Human Usher syndrome, the most frequent cause of deaf blindness, is characterized by congenital deafness, due to loss of sensory hair cells, and progressive retinal degeneration, due to retinitis pigmentosa. Although nine of the genes responsible for Usher syndrome and one genetic modifier gene have been identified to date, we still lack an understanding of the normal functions of these genes or what goes wrong in the disease. This is primarily because the ten known genes encode a surprisingly broad range of different types of proteins, all with multiple isoforms, and we currently lack animal models and tools to study their functions. Due to recent advances in zebrafish genetic technology, it is now possible to isolate mutations in any gene and easily produce transgenic animals with altered gene expression. This project will develop libraries of mutants, transgenics, and antibodies to characterize all the genes known to contribute to Usher syndrome. Together, these libraries will provide the first resource ever generated to dissect the distinct functions of the complete set of known genes that underlie a human disease.

描述（由申请人提供）：人类亚瑟综合症是耳聋失明的最常见原因，其特征是由于感觉毛细胞丧失而导致的先天性耳聋，以及由于视网膜色素变性而导致的进行性视网膜变性。尽管迄今为止已鉴定出九个导致亚瑟综合症的基因和一个遗传修饰基因，但我们仍然对这些基因的正常功能或疾病中出现的问题缺乏了解。这主要是因为十个已知基因编码令人惊讶的广泛不同类型的蛋白质，所有蛋白质都具有多种亚型，而我们目前缺乏动物模型和工具来研究它们的功能。由于斑马鱼遗传技术的最新进展，现在可以分离任何基因的突变，并轻松生产基因表达发生改变的转基因动物。该项目将开发突变体、转基因和抗体库，以表征所有已知导致亚瑟综合症的基因。这些图书馆将共同提供有史以来第一个资源，用于剖析构成人类疾病的全套已知基因的独特功能。