课题基金 / 基金详情

PAX6 FUNCTION AND ANIRIDIA

PAX6 FUNCTION AND ANIRIDIA
PAX6 功能和无虹膜
批准号：
2654659
负责人：
GRADY F SAUNDERS
金额：
$22.65万
依托单位：
UNIVERSITY OF TX MD ANDERSON CAN CTR
依托单位国家：
美国
项目类别：
财政年份：
1992
资助国家：
美国
项目状态：
已结题
起止时间：
1992-08-01 至 2000-01-31
来源：
https://reporter.nih.gov/project-details/2654659
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

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中文摘要
翻译
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。
英文摘要
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.
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