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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

基本信息

批准号：
8471097
负责人：
Monte Westerfield
金额：
$ 27.75万
依托单位：
UNIVERSITY OF OREGON
依托单位国家：
美国
项目类别：
财政年份：
2010
资助国家：
美国
起止时间：
2010-06-29 至 2015-05-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8471097
关键词：
Affect American Antibodies Behavior Binding Biological Assay Blindness Cell Death Cells Cilia Complex Counseling Defect Development Diagnosis Disease Distal Ear Electron Microscopy Electroretinography Equilibrium Eye Gene Family Genes Genetic Genetic Counseling Hair Cells Hearing Hearing Impaired Persons Human In Vitro Kinocilium Labyrinth Lead Link Maintenance Modeling Mutant Strains Mice Mutation Opsin Organ Orthologous Gene Patients Phenotype Photoreceptors Phototransduction Play Process Proteins Research Retina Retinal Retinal Degeneration Retinitis Pigmentosa Role Scaffolding Protein Sensory Hair Site Stereocilium Symptoms Synapses Testing Transgenic Organisms Tubulin Usher Syndrome Visual Work Zebrafish assay development congenital deafness deafness gain of function gene discovery human disease light microscopy member mutant protein complex protein function public health relevance research study scaffold synaptic function therapy design trafficking

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. Twelve different chromosomal loci have been linked to Usher syndrome and nine of the genes have been identified to date. Identification of the missing Usher genes is crucial for diagnosis and patient counseling. The nine known genes encode a surprisingly broad range of different types of proteins. Although the roles of these proteins are poorly understood, recent studies suggest that they function together in a multimolecular complex. This project focuses on analysis of the two scaffold proteins that play a central role in organizing the complex, and a new potential member of this organizing scaffold. The project has three main aims: 1) to determine whether the newly discovered gene encodes an Usher scaffold protein, 2) to analyze the functions of the scaffold proteins in organizing the Usher proteins into a complex, and 3) to determine how the Usher protein complex functions in cells of the inner ear and retina.

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。12个不同的染色体位点与Usher综合征有关，其中9个基因已被鉴定。鉴定缺失的Usher基因对于诊断和患者咨询至关重要。这九个已知基因编码的蛋白质种类之多令人惊讶。虽然这些蛋白质的作用知之甚少，但最近的研究表明，它们在多分子复合物中共同发挥作用。该项目的重点是分析在组织复合物中起核心作用的两种支架蛋白，以及这种组织支架的新的潜在成员。该项目有三个主要目标：1）确定新发现的基因是否编码Usher支架蛋白，2）分析支架蛋白在将Usher蛋白组织成复合物中的功能，以及3）确定Usher蛋白复合物如何在内耳和视网膜细胞中发挥作用。