Identification of Protein Coding Genes in Human Genomes

描述(由申请人提供)：一项宏大的努力正在进行中，以完成整个人类基因组的测序。利用计算工具识别功能序列元件已变得越来越重要。我们的长期目标是使用数学和统计方法在人类基因组中识别人类蛋白质编码基因，这意味着定位它们与启动子和多聚腺苷信号结合的大致位置，根据它们的外显子、内含子和编码序列来描述它们的组织结构，并通过研究它们的控制/调节元件和它们的编码蛋白来推断它们的结构/功能。我们对这一新的应用有以下三个具体目标：(1)开发数据库和计算方法来识别人和小鼠蛋白质编码基因的第一外显子。(2)通过研究几组具有良好特征的组织/发育特异性脊椎动物基因，开发一种基于进化的算法来检测近端启动子。(3)建立鉴定人和小鼠蛋白质编码基因选择性剪接外显子和转录本的数据库和计算方法。由该项目产生的方法和工具将帮助分子生物学家发现人类基因，并更有效和更准确地解释结构/功能。

DESCRIPTION (provided by applicant): A grand effort is underway to complete the sequencing of the entire human genome. Identification of functional sequence elements by computational tools has become increasingly important. Our long term goal is to use mathematical and statistical methods to identify human protein coding genes in the human genome, which means to locate their approximate positions bound by the promoters and the polyadenylation signals, to delineate their organization in terms of their exons, introns and coding sequences, and to infer their structure/function by examining their control/regulatory elements and their encoded proteins. We have the following three specific aims for this renewal application: (1) To develop database and computational methods for identification of first exons in human and mouse protein coding genes. (2) To develop an evolutionary based algorithm for detecting proximal-promoters by studying a few well characterized sets of tissue/developmental specific vertebrate genes. (3) To develop database and computational methods for identification of alternatively spliced exons and transcripts in human and mouse protein coding genes. The methods and tools resulting from this project will help molecular biologists to find human genes and to interpret the structures/functions more efficiently and more accurately.