TIGR AND DEVELOPMENT OF THE EYE

据估计，TIGR基因的突变导致了3%的 TIGR功能正常的开角型青光眼占总例数的43.3%， TIGR相关青光眼的发病机制尚不清楚。 长 本项目的长期目标是阐明TIGR的作用 基因产物在眼睛发育中的作用，希望这些信息 将提供一个背景，在其中了解如何TIGR突变 有助于疾病。本提案中工作的近期目标 是开发研究TIGR功能的动物系统， 发展该项目有三个具体目标。 具体目标1是 从小鼠和鸡组织获得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是产生两个系的转基因小鼠 在TIGR基因中有不同的破坏，并分析 这些干扰对眼睛发育的影响。 具体目标3 检验了转录因子1 mx-b调节TIGR的假设 在胚胎发育过程中表达。 这项工作将是重要的第一次 了解TIGR在眼睛发育过程中的作用， 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.