O'Brien Kevin P, Westerlund Isabelle, Sonnhammer Erik L L
Center for Genomics and Bioinformatics, Karolinska Institutet, Stockholm, Sweden.
Hum Mutat. 2004 Aug;24(2):112-9. doi: 10.1002/humu.20068.
One of the greatest promises of genome sequencing projects is to further the understanding of human diseases and to develop new therapies. Model organism genomes have been sequenced in parallel to human genomes to provide effective tools for the investigation of human gene function. Many of their genes share a common ancestry and function with human genes, and this is particularly true for orthologous genes. Here we present OrthoDisease, a comprehensive database of model organism genes that are orthologous to human disease genes. OrthoDisease was constructed by applying the Inparanoid ortholog detection algorithm to disease genes derived from the Online Mendelian Inheritance in Man database (OMIM). Pairwise whole genome/proteome comparisons between Homo sapiens and six other organisms were performed to identify ortholog clusters. OMIM numbers were extracted from the OMIM Morbid Map and were converted to gene sequences using the Locuslink mim2loc and loc2acc tables. These were mapped to Inparanoid ortholog clusters using Blast. The number of ortholog clusters in OrthoDisease with each respective species is currently: M. musculus, 1,354; D. melanogaster, 724; C. elegans, 533; A. thaliana, 398; S. cerevisiae, 290; and E. coli, 153. The database is accessible online at http://orthodisease.cgb.ki.se, and can be searched with disease or protein names. The web interface presents all ortholog clusters that include a selected disease gene. A capability to download the entire dataset is also provided.
基因组测序项目最伟大的前景之一是增进对人类疾病的理解并开发新疗法。模式生物基因组已与人类基因组并行测序,以提供研究人类基因功能的有效工具。它们的许多基因与人类基因有着共同的祖先和功能,直系同源基因尤其如此。在此,我们展示了OrthoDisease,这是一个与人类疾病基因直系同源的模式生物基因的综合数据库。OrthoDisease是通过将Inparanoid直系同源物检测算法应用于源自《人类孟德尔遗传在线》数据库(OMIM)的疾病基因构建而成。对智人与其他六种生物进行了全基因组/蛋白质组两两比较,以识别直系同源簇。从OMIM疾病图谱中提取OMIM编号,并使用Locuslink mim2loc和loc2acc表将其转换为基因序列。使用Blast将这些序列映射到Inparanoid直系同源簇。目前,OrthoDisease中与每个相应物种的直系同源簇数量分别为:小家鼠,1354个;黑腹果蝇,724个;秀丽隐杆线虫,533个;拟南芥,398个;酿酒酵母,290个;大肠杆菌,153个。该数据库可在http://orthodisease.cgb.ki.se在线访问,可使用疾病或蛋白质名称进行搜索。网络界面展示了所有包含选定疾病基因的直系同源簇。还提供了下载整个数据集的功能。