RETINA SPECIFIC TRANSCRIPT MAP OF THE HUMAN GENOME

人类基因组的视网膜特异性转录图谱

• 批准号: 6384825
• 负责人: KIM C WORLEY
• 金额: $ 24.72万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-08-01 至 2002-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6384825
• 关键词: abstracting; computer assisted sequence analysis; gene expression; genetic mapping; genome; human genetic material tag; information retrieval; mathematical model; molecular biology information system; nucleic acid hybridization; retina; sequence tagged sites

Description: (Adapted from the applicant's abstract): Since their conception, expressed sequence tags (ESTs) have increased in number and tissue variety, making them a valuable tool for regional gene cloning, as well as for the global effort to saturate the human transcript map. A substantial gap exists, however, between the generation of large volumes of data and their analysis, particularly with respect to gene function. The research application outlined here aims to bridge this gap and addresses the issue of tissue-specific gene expression in the human retina. To accomplish this, the information deposited in the GenBank EST database (dbEST) will be used to extract ESTs that are found only in retina libraries and no other tissue. These ESTs will be mapped in the human genome to generate a retina-specific transcript map, onto which all known mapped genetic ocular diseases will be superimposed. As a result, a substantial number of positional candidate genes for a wide range of retinopathies will be identified and offered to the scientific community through the Internet. To increase the versatility of the in silico subtraction algorithm, the investigator will subsequently construct routines that will examine large volumes of BLAST output files and determine the putative expression of any given EST through alignments with ESTs from various tissues. This will allow for a broadening of the scope of the searches to include additional tissues, such as pineal gland, searches for combinations of tissues or selecting the tissue specificity of ESTs on a ratio basis, e.g., 80 percent retina specificity. Upon completion of the computer processing of the data, all subtracted ESTs will be arrayed on a glass surface and hybridized with cDNA from retina, as well as other tissues such as brain, heart and testis. This will serve to both verify the transcription potential of the in silico subtracted EST collection and give initial biological data on the spatio-temporal message distribution for these new genes, which will be a strong base for the design of future experiments.

描述：（改编自申请人摘要）：自其构思以来， 表达序列标签（EST）的数量和组织多样性有所增加， 使它们成为区域基因克隆的宝贵工具， 全球努力使人类转录图谱饱和。存在很大的差距， 然而，在大量数据的产生和分析之间， 尤其是基因功能方面。研究应用概述 本文旨在弥合这一差距，并解决组织特异性基因的问题， 在人类视网膜中的表达。为了做到这一点，储存的信息 在GenBank EST数据库（dbEST）中，将用于提取发现的EST 只在视网膜库中，没有其他组织。这些EST将被映射到 人类基因组来生成视网膜特异性转录物图谱， 映射的遗传性眼病将被叠加。因此，一个实质性的 许多视网膜病变的位置候选基因将被 并通过互联网提供给科学界。到 增加计算机模拟减法算法的通用性， 调查人员随后将建立例行程序， 大量的BLAST输出文件，并确定任何 通过与来自不同组织的EST进行比对来给出EST。这将允许 为了扩大搜索范围以包括额外的组织， 例如松果体，搜索组织的组合或选择 基于比率的EST的组织特异性，例如，80%视网膜 的特异性在完成电脑处理数据后，所有 将消减的EST排列在玻璃表面上并与cDNA杂交 从视网膜，以及其他组织，如大脑，心脏和睾丸。这 将用于验证计算机模拟的转录潜力， 减去EST收集，并给出关于 这些新基因的时空信息分布，这将是一个 为今后的实验设计打下坚实的基础。