RETINA SPECIFIC TRANSCRIPT MAP OF THE HUMAN GENOME

描述：(改编自申请人的摘要)：由于他们的概念， 表达序列标签(EST)在数量和组织种类上增加， 使它们成为区域基因克隆的宝贵工具，以及 全球努力使人类成绩单地图饱和。存在着很大的差距， 然而，在大量数据的产生和分析之间， 尤其是在基因功能方面。概述了该研究的应用 这里旨在弥合这一差距，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，存放的信息 在GenBank中，EST数据库(DBEST)将用于提取发现的EST 只存在于视网膜库中，没有其他组织。这些EST将被映射到 人类基因组产生视网膜特异的转录图谱，在这个图谱上，所有人都知道 绘制的遗传性眼病将叠加在一起。因此，一个实质性的 广泛视网膜病变的位置候选基因的数量将是 通过互联网确定并提供给科学界。至 增加了In Silico减法算法的通用性， 调查员随后将构建例行程序，以检查 BLAST输出文件的卷，并确定任何 通过与来自不同组织的EST进行比对得到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%的视网膜 专一性。在完成数据的计算机处理后，所有 消减后的EST将排列在玻璃表面并与cDNAs杂交 来自视网膜以及其他组织，如大脑、心脏和睾丸。这 将用于验证In Silico的转录潜力 减去EST收集，并提供关于 这些新基因的时空信息分布，这将是一个 为以后的实验设计打下了坚实的基础。

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.