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:
    8099700
  • 负责人:
  • 金额:
    $ 29.21万
  • 依托单位:
  • 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

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. PUBLIC HEALTH RELEVANCE: Usher syndrome, the leading cause of deaf blindness, is a genetically heritable disorder that affects tens of thousands of Americans. Deafness in Usher syndrome is due to loss of inner ear sensory hair cells and can range from moderate to profound. Blindness is due to retinitis pigmentosa. Mutations in any one of at least a dozen different genes can cause Usher syndrome, only nine of the genes have been identified. Recent research suggests that the various proteins encoded by the Usher genes act together in a multimolecular complex, although the processes that lead to loss of inner ear and retinal cells when the complex is defective are unknown. This project will elucidate how and where the complex functions and the mechanisms by which it assembles. The project will also identify new members of the Usher gene family. This information is important for diagnosis, genetic counseling, and design of therapies for Usher patients.
描述(申请人提供):人类亚瑟综合征是最常见的耳聋致盲原因,其特征是先天性耳聋,原因是感觉性毛细胞丧失,以及进行性视网膜变性,原因是视网膜色素变性。12个不同的染色体位点与亚瑟综合征有关,到目前为止,已确定其中9个基因。识别缺失的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不同类型的蛋白质范围之广令人惊讶。尽管人们对这些蛋白质的作用知之甚少,但最近的研究表明,它们在一个多分子复合体中共同发挥作用。本项目重点分析在组织复合体中发挥核心作用的两种支架蛋白,以及这种组织支架的一个新的潜在成员。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蛋白组织成复合体方面的功能,以及3)确定Usher蛋白复合体在内耳和视网膜细胞中的功能。 与公共卫生相关:Usher综合征是导致失聪的主要原因,是一种遗传疾病,影响着成千上万的美国人。亚瑟综合征的耳聋是由于内耳感觉毛细胞的丧失,从中度到深度不等。失明是由于视网膜色素变性引起的。至少12个不同基因中的任何一个的突变都会导致亚瑟综合征,目前只有9个基因被识别出来。最近的研究表明,Usher基因编码的各种蛋白质在一个多分子复合体中共同作用,尽管当复合体缺陷时导致内耳和视网膜细胞丢失的过程尚不清楚。这个项目将阐明复杂的功能如何以及在哪里发挥作用,以及它的组装机制。该项目还将确定Usher基因家族的新成员。这些信息对USHER患者的诊断、遗传咨询和治疗设计都很重要。

项目成果

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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

Zebrafish International Resource Center
斑马鱼国际资源中心
  • 批准号:
    10516402
  • 财政年份:
    2022
  • 资助金额:
    $ 29.21万
  • 项目类别:
Zebrafish Core
斑马鱼核心
  • 批准号:
    10201759
  • 财政年份:
    2015
  • 资助金额:
    $ 29.21万
  • 项目类别:
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:
    $ 29.21万
  • 项目类别:
Resource to support Usher syndrome research
支持亚瑟综合症研究的资源
  • 批准号:
    8181474
  • 财政年份:
    2011
  • 资助金额:
    $ 29.21万
  • 项目类别:
Resource to support Usher syndrome research
支持亚瑟综合症研究的资源
  • 批准号:
    8332838
  • 财政年份:
    2011
  • 资助金额:
    $ 29.21万
  • 项目类别:
Resource to support Usher syndrome research
支持亚瑟综合症研究的资源
  • 批准号:
    8486502
  • 财政年份:
    2011
  • 资助金额:
    $ 29.21万
  • 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:
    $ 29.21万
  • 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:
    $ 29.21万
  • 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:
    $ 29.21万
  • 项目类别:
Zebrafish International Resource Center
斑马鱼国际资源中心
  • 批准号:
    7920734
  • 财政年份:
    2009
  • 资助金额:
    $ 29.21万
  • 项目类别:

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