PAX6 FUNCTION AND ANIRIDIA

PAX6 功能和无虹膜

• 批准号: 2872365
• 负责人: GRADY F SAUNDERS
• 金额: $ 23.41万
• 依托单位: UNIVERSITY OF TX MD ANDERSON CAN CTR
• 依托单位国家: 美国
• 财政年份: 1992
• 资助国家: 美国
• 起止时间: 1992-08-01 至 2000-09-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2872365
• 关键词: DNA footprinting; congenital eye disorder; gel mobility shift assay; gene expression; gene mutation; genetic regulatory element; genetic transcription; genetically modified animals; human genetic material tag; human subject; iris; laboratory mouse; molecular cloning; molecular genetics; northern blottings; nucleic acid sequence; phenotype; polymerase chain reaction; protein sequence; protein structure function; site directed mutagenesis; structural genes; tissue /cell culture

DESCRIPTION: This proposal is directed towards understanding how the human PAX6 gene and protein are regulated and identifying target genes regulated by PAX6. The aims are 1) to identify the regulatory elements involved in PAX gene transcription; 2) to determine whether PAX6 regulates its own synthesis; 3)to use in vitro mutagenesis for studies of structure and function of the PAX6 protein; 4) to extend analyses of naturally occurring mutations in aniridia patients and examine the consequences of these mutations by constructing PAX6 expression vectors containing these mutations; and 5) to identify the target genes regulated by PAX6.

描述：这项建议旨在了解 人PAX6基因和蛋白的调控及识别靶基因 由PAX6调节。目标是1)确定监管要素 参与PAX基因转录；2)确定PAX6 调节自身的合成；3)利用体外诱变进行研究 研究了PAX6蛋白的结构和功能；4)扩展了对 在无虹膜患者中自然发生的突变并检查 通过构建PAX6表达载体研究这些突变的后果 包含这些突变；以及5)识别靶基因 由PAX6调节。