A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster

A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster
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DOI:
10.1101/gr.169101
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发表时间:
2001-06-01
期刊:
影响因子:
7
通讯作者:
Bier, E
Bier, E
中科院分区:
生物学1区
文献类型:
--
作者:
Reiter, LT;Potocki, L;Bier, E

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我们进行了系统的BLAST分析929人类疾病基因条目与至少一个突变等位基因在网上孟德尔遗传在人(OMIM)数据库对最近完成的基因组序列的果蝇。这一搜索的结果已被列为一个可更新和搜索的在线数据库,称为同性恋。我们的分析确定了714个不同的人类疾病基因(77%的疾病基因搜索)匹配548个独特的果蝇序列,我们总结了疾病类别。这种疾病类别的分解创建了一个疾病基因的图片,适合使用果蝇作为模式生物进行研究。在548个与人类疾病基因相关的果蝇基因中,有153个与已知的突变等位基因相关,还有56个在基因中或基因附近插入了P元件。最后给出了利用该数据库识别果蝇中与人类疾病相关基因的实例。我们预计,使用果蝇第二位点修饰剂筛选的能力对人类疾病基因进行跨基因组分析将促进人类和果蝇研究小组之间的互动,加速对人类遗传疾病发病机制的理解。Homophila数据库可在http://homophila.sdsc.edu上查阅。
We performed a systematic BLAST analysis of 929 human disease gene entries associated with at least one mutant allele in the Online Mendelian Inheritance in Man (OMIM) database against the recently completed genome sequence of Drosophila melanogaster. The results of this search have been Formatted as an updateable and searchable on-line database called Homophila. Our analysis identified 714 distinct human disease genes (77% of disease genes searched) matching 548 unique Drosophila sequences, which we have summarized by disease category. This breakdown into disease classes creates a picture of disease genes that are amenable to study using Drosophila as the model organism. Of the 548 Drosophila genes related to human disease genes, 153 are associated with known mutant alleles and 56 more are tagged by P-element insertions in or near the gene. Examples of how to use the database to identify Drosophila genes related to human disease genes are presented. We anticipate that cross-genomic analysis of human disease genes using the power of Drosophila second-site modifier screens will promote interaction between human and Drosophila research groups, accelerating the understanding of the pathogenesis of human genetic disease. The Homophila database is available at http://homophila.sdsc.edu.