Identification of Protein Coding Genes in Human Genomes

描述（由申请人提供）：一项伟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素已变得越来越重要。我们的长期目标是利用数学和统计方法鉴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/调节元件和编码蛋白来推断它们的结构/功能。我们的更新申请有以下三个具体目标：(1)开发人类和小鼠蛋白质编码基因第一外显子识别的数据库和计算方法。(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近端启动子检测算法。(3)建立数据库和计算方法，用于鉴定人类和小鼠蛋白编码基因的选择性剪接外显子和转录本。该项目所产生的方法和工具将帮助分子生物学家更有效、更准确地发现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.