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Citation
Yamamoto, S., Jaiswal, M., Charng, W.L., Gambin, T., Karaca, E., Mirzaa, G., Wiszniewski, W., Sandoval, H., Haelterman, N.A., Xiong, B., Zhang, K., Bayat, V., David, G., Li, T., Chen, K., Gala, U., Harel, T., Pehlivan, D., Penney, S., Vissers, L.E., de Ligt, J., Jhangiani, S.N., Xie, Y., Tsang, S.H., Parman, Y., Sivaci, M., Battaloglu, E., Muzny, D., Wan, Y.W., Liu, Z., Lin-Moore, A.T., Clark, R.D., Curry, C.J., Link, N., Schulze, K.L., Boerwinkle, E., Dobyns, W.B., Allikmets, R., Gibbs, R.A., Chen, R., Lupski, J.R., Wangler, M.F., Bellen, H.J. (2014). A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.  Cell 159(1): 200--214.
FlyBase ID
FBrf0226297
Publication Type
Research paper
Abstract
Invertebrate model systems are powerful tools for studying human disease owing to their genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal mutations on the Drosophila X chromosome to identify genes required for the development, function, and maintenance of the nervous system. We identified 165 genes, most of whose function has not been studied in vivo. In parallel, we investigated rare variant alleles in 1,929 human exomes from families with unsolved Mendelian disease. Genes that are essential in flies and have multiple human homologs were found to be likely to be associated with human diseases. Merging the human data sets with the fly genes allowed us to identify disease-associated mutations in six families and to provide insights into microcephaly associated with brain dysgenesis. This bidirectional synergism between fly genetics and human genomics facilitates the functional annotation of evolutionarily conserved genes involved in human health.
Graphical Abstract
Obtained with permission from Cell Press.
PubMed ID
PubMed Central ID
PMC4298142 (PMC) (EuropePMC)
Related Publication(s)
Personal communication to FlyBase
X chromosome lethals from the Bellen lab.
Yamamoto et al., 2013-, X chromosome lethals from the Bellen lab. [FBrf0223478]
Note
Flies give wings to human disease studies.
Todorovic, 2014, Nat. Methods 11(12): 1197 [FBrf0228356]
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Secondary IDs
    Language of Publication
    English
    Additional Languages of Abstract
    Parent Publication
    Publication Type
    Journal
    Abbreviation
    Cell
    Title
    Cell
    Publication Year
    1974-
    ISBN/ISSN
    0092-8674
    Data From Reference
    Alleles (3)
    Genes (4)
    Human Disease Models (2)
    Datasets (1)
    Natural transposons (1)
    Experimental Tools (2)
    Transgenic Constructs (1)