TIGR AND DEVELOPMENT OF THE EYE

据估计，TIGR基因的突变导致3%的 开角型青光眼总例数但TIGR功能正常 TIGR相关性青光眼的发病机制尚不清楚。《长河》 本项目的学期目标是阐明TIGR的作用 基因产物在眼睛发育中，希望用这个信息 将提供一个环境来理解TIGR突变是如何 会导致疾病。这项提案中工作的直接目标是 是建立用于研究TIGR功能的动物系统 发展。这个项目有三个具体目标。具体目标1是 从小鼠和鸡组织中获得TIGR基因组克隆 确定TIGR在胚胎、新生儿和 成人的眼睛。具体目标2是产生两个转基因小鼠系 TIGR基因的不同中断，并分析 这些干扰对眼睛发育的影响。具体目标3 验证转录因子1MX-b调节TIGR的假设 在胚胎发育过程中的表达。这项工作将是一个重要的第一步 了解TIGR在眼睛发育和眼球发育中的作用 疾病，并将成为未来研究的基础。

Mutations in the TIGR gene are estimated to contribute to 3 percent of the total cases of open angle glaucoma, but the normal function of TIGR and the pathogenesis of TIGR-related glaucoma remain unknown. The long term objective of this project is to elucidate the roles of the TIGR gene product in eye development, with the hope that this information will provide a context within which to understand how TIGR mutations contribute to disease. The immediate goal of the work in this proposal is to develop animal systems for studying TIGR function during development. This project has three specific aims. Specific aim 1 is to obtain TIGR genomic clones from mouse and chicken tissue and to determine the patterns of TIGR expression in embryonic, neonatal, and adult eyes. Specific aim 2 is to generate two lines of transgenic mice with different disruptions in the TIGR gene and to analyze the consequences of these disruptions on eye development. Specific aim 3 tests the hypothesis that the transcription factor 1mx-b regulates TIGR expression during embryogenesis. This work will be an important first step in understanding the roles of TIGR during eye development and disease, and will be the foundation of future studies.