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

Lawrence Reiter, Lorraine Potocki, Sam Chien, Michael Gribskov, Ethan Bier

Research output: Contribution to journalArticle

453 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1114-1125
Number of pages12
JournalGenome Research
Volume11
Issue number6
DOIs
StatePublished - Sep 22 2001
Externally publishedYes

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Drosophila melanogaster
Drosophila
Genes
Databases
Alleles
Genetic Databases
Inborn Genetic Diseases
Medical Genetics
Genome

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster. / Reiter, Lawrence; Potocki, Lorraine; Chien, Sam; Gribskov, Michael; Bier, Ethan.

In: Genome Research, Vol. 11, No. 6, 22.09.2001, p. 1114-1125.

Research output: Contribution to journalArticle

Reiter, Lawrence ; Potocki, Lorraine ; Chien, Sam ; Gribskov, Michael ; Bier, Ethan. / A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster. In: Genome Research. 2001 ; Vol. 11, No. 6. pp. 1114-1125.
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