Identification of Protein Coding Genes in Human Genomes

描述（由申请人提供）：正在进行一项重大努力，以完成整个人类基因组的测序。通过计算工具鉴定功能序列元件变得越来越重要。我们的长期目标是利用数学和统计学方法来确定人类基因组中的人类蛋白质编码基因，这意味着定位它们由启动子和多聚腺苷酸化信号结合的近似位置，根据它们的外显子、内含子和编码序列描绘它们的组织，并通过检查它们的控制/调节元件和它们编码的蛋白质来推断它们的结构/功能。我们的更新申请有以下三个具体目标：（1）开发用于识别人和小鼠蛋白质编码基因第一外显子的数据库和计算方法。(2)通过研究几组组织/发育特异性脊椎动物基因，开发一种基于进化的近端启动子检测算法。(3)建立人类和小鼠蛋白质编码基因可变剪接外显子和转录本的数据库和计算方法。该项目产生的方法和工具将帮助分子生物学家更有效、更准确地找到人类基因并解释其结构/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.