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

By Lawrence T. Reiter, L. Potocki, S. Chien, Michael Gribskov, Ethan Bier. Genome Research, 2001

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We performed a systematic 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.

Subfields: Immunology, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/bc6714e0ac1dc19bb52b469d51a9b527119e5c24

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Citations in the corpus

The Fly as a Model for Neurodegenerative Diseases: Is It Worth the Jump? (2007, positive): “Human neurodegenerative diseases are responsible for devastating symptoms such as ataxia, tremor, movement disorders, and cognitive and memory loss, all because of dysfunction and loss of specialised neurons. The pathogenicity of such diseases can be triggered either at the protein level as is the c”
Drosophila strategies to study psychiatric disorders. (2013, background): “one third of the human disease genes, involved in a broad spectrum of diseases, have sufficiently well conserved homologues to be studied in Drosophila [138].”
Modelling learning and memory in Drosophila to understand Intellectual Disabilities. (2020, positive): “Importantly, about 75% of the genes involved in human IDs are believed to have a functional ortholog in Drosophila (Reiter et al., 2001; Chien et al., 2002; Oortveld et al., 2013; Narayanan and Rothenfluh, 2016).”
Human Disease Models in Drosophila melanogaster and the Role of the Fly in Therapeutic Drug Discovery (2011, background): “It has been estimated that nearly 75% of disease-related genes in humans have functional orthologs in the fly (Reiter et al., 2001; Lloyd and Taylor, 2010).”
FlyAtlas 2: a new version of the Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data (2017, positive): “The Drosophila genome contains many genes homologous to ones in Homo sapiens , including 75% of those known to be involved in human disease (3).”
Drosophila orthologues to human disease genes: an update on progress. (2008, background): “CG4094 Lethal (1) G0255 Fumarase deficiency, 606812 (3); Leiomyomatosis and renal cell cancer, 605839 (3); Multiple cutaneous and uterine leiomyomata, 150800 (3)”
Alternatives to animal testing: A review (2013, positive): “Nearly 75% of the genes involved in human diseases are believed to have a functional homolog in the ﬂy (Reiter et al., 2001; Wilson-Sanders, 2011).”