Etiology of Human Genetic Disease on the Fly

• Published in: Trends in genetics Vol. 33; no. 6; pp. 391 - 398
• Main Authors: Chow, Clement Y, Reiter, Lawrence T
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.06.2017
• Subjects: Alleles; Animals; background allele screen; copy number variants; Disease Models, Animal; Drosophila melanogaster - genetics; Drosophila models of disease; Genetic Diseases, Inborn; Genomics - methods; Humans; Medical Education; MiMIC transposon; Phenotype; variant analysis; MiMIC transposon; background allele screen; copy number variants; variant analysis; Drosophila models of disease
• ISSN: 0168-9525
• DOI: 10.1016/j.tig.2017.03.007

The model organism Drosophila melanogaster has been at the forefront of genetic studies since before the discovery of DNA. Although human disease modeling in flies may still be rather novel, recent advances in genetic tool design and genome sequencing now confer huge advantages in the fly system when modeling human disease. In this review, we focus on new genomic tools for human gene variant analysis; new uses for the Drosophila Genetic Reference Panel (DGRP) in detection of background alleles that influence a phenotype; and several examples of how multigenic conditions, both complex disorders and duplication and/or deletion syndromes, can be effectively studied in the fly model system. Fruit flies are a far cry from the quaint genetic model of the past, but rather, continue to evolve as a powerful system for the study of human genetic disease.