Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching

• Published in: Nature genetics Vol. 13; no. 2; pp. 167 - 174
• Main Authors: Banfi, Sandro, Borsani, Giuseppe, Rossi, Elena, Bernard, Loris, Guffanti, Alessandro, Rubboli, Francesca, Marchitiello, Anna, Giglio, Sabrina, Coluccia, Elisabetta, Zollo, Massimo, Zuffardi, Orsetta, Ballabio, Andrea
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group 01.06.1996
• Subjects: Amino Acid Sequence; Animals; Biological and medical sciences; Chromosome Mapping - methods; Classical genetics, quantitative genetics, hybrids; Computer Communication Networks; Databases, Factual; DNA, Complementary; Drosophila; Drosophila melanogaster - genetics; Fundamental and applied biological sciences. Psychology; Genes, Insect; Genetics of eukaryotes. Biological and molecular evolution; Humans; Hybrid Cells - radiation effects; In Situ Hybridization, Fluorescence; Invertebrata; Models, Genetic; Molecular Sequence Data; Mutation; Phenotype; Sequence Alignment - methods; Sequence Homology, Amino Acid; Sequence Homology, Nucleic Acid; Genetic mapping; Animal model; Insecta; Interspecific comparison; Drosophila; Chromosome; Homology; Drosophilidae; Genetic disease; Complementary DNA; Gene; Arthropoda; Database; Mutation; Invertebrata; Expressed sequence tag; Diptera
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng0696-167

Cross-species comparison is an effective tool used to identify genes and study their function in both normal and pathological conditions. We have applied the power of Drosophila genetics to the vast resource of human cDNAs represented in the expressed sequence tag (EST) database (dbEST) to identify novel human genes of high biological interest. Sixty-six human cDNAs showing significant homology to genes causing Drosophila mutant phenotypes were identified by screening dbEST using the "text string' option, and their map position was determined using both fluorescence in situ hybridization (FISH) and radiation hybrid mapping. Comparison between these genes and their putative partners in Drosophila may provide important insights into their function in mammals. Furthermore, integration of these genes into the transcription map of the human genome contributes to the positional candidate approach for disease gene identification.