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:8181474
- 负责人:
- 金额:$ 31.63万
- 依托单位:
- 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:
- 关键词:AffectAllelesAmericanAnimal ModelAntibodiesBiological AssayBlindnessCellsCloningCodeCommunitiesDepositionDevelopmentDiseaseEarEngineeringEnhancersEyeGene ExpressionGene MutationGene TargetingGenesGeneticGenetic RecombinationHair CellsHearing Impaired PersonsHereditary DiseaseHumanInformation CentersInternationalLabyrinthLeadLibrariesMolecular and Cellular BiologyMutateMutationMutation AnalysisNeurogliaNeuronsOrthologous GenePathologyPhysiologyPrincipal InvestigatorProcessProtein IsoformsProtein RegionProteinsResearchResourcesRetinaRetinal DegenerationRetinitis PigmentosaSensory HairSiteSystemTechniquesTerminator CodonTransgenesTransgenic AnimalsTransgenic OrganismsUsher SyndromeValidationVisionZebrafishZinc Fingersanimal resourcecell typecongenital deafnessgene functiongenetic technologyhearing impairmenthuman diseaseloss of functionloss of function mutationmodel organisms databasesmutantnucleasepromotertoolvector
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.
PUBLIC HEALTH RELEVANCE (provided by applicant): Usher syndrome, the leading cause of deaf blindness, is a genetic disorder that affects tens of thousands of Americans. Mutations in any one of at least a dozen different genes can cause Usher syndrome, but the processes that lead to loss of hearing and vision are unknown. This project will develop a complete resource of animal models and tools necessary to understand the molecular and cellular biology of Usher syndrome.
描述(由申请人提供):人类Usher综合征是聋盲的最常见原因,其特征是由于感觉毛细胞丧失引起的先天性耳聋和由于色素性视网膜炎引起的进行性视网膜变性。尽管迄今为止已经确定了9个导致Usher综合征的基因和1个遗传修饰基因,但我们仍然缺乏对这些基因的正常功能或疾病中出现的问题的了解。这主要是因为这10个已知基因编码的蛋白质种类之多令人惊讶,而且都有多种亚型,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中的突变并容易地产生具有改变的基因表达的转基因动物。该项目将开发突变体,转基因和抗体库,以表征已知导致Usher综合征的所有基因。总之,这些文库将提供有史以来第一个资源,以剖析构成人类疾病基础的全套已知基因的独特功能。
公共卫生相关性(由申请人提供):Usher综合征是导致聋盲的主要原因,是一种影响数万美国人的遗传性疾病。至少十几种不同基因中的任何一种突变都可能导致Usher综合征,但导致听力和视力丧失的过程尚不清楚。这个项目将开发一个完整的资源,动物模型和必要的工具,以了解分子和细胞生物学的Usher综合征。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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Monte Westerfield其他文献
Monte Westerfield的其他文献
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{{ truncateString('Monte Westerfield', 18)}}的其他基金
Genetic and functional analysis of YPEL3 and its link to disease
YPEL3 的遗传和功能分析及其与疾病的联系
- 批准号:
9070011 - 财政年份:2015
- 资助金额:
$ 31.63万 - 项目类别:
The functions of PDZ domain scaffold proteins in Usher syndrome
PDZ结构域支架蛋白在Usher综合征中的功能
- 批准号:
8099700 - 财政年份:2010
- 资助金额:
$ 31.63万 - 项目类别:
The functions of PDZ domain scaffold proteins in Usher syndrome
PDZ结构域支架蛋白在Usher综合征中的功能
- 批准号:
8471097 - 财政年份:2010
- 资助金额:
$ 31.63万 - 项目类别:
The functions of PDZ domain scaffold proteins in Usher syndrome
PDZ结构域支架蛋白在Usher综合征中的功能
- 批准号:
8662744 - 财政年份:2010
- 资助金额:
$ 31.63万 - 项目类别:
The functions of PDZ domain scaffold proteins in Usher syndrome
PDZ结构域支架蛋白在Usher综合征中的功能
- 批准号:
8301725 - 财政年份:2010
- 资助金额:
$ 31.63万 - 项目类别:
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