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Citation
Si-Dong, P.D., Todi, S.V., Eberl, D.F., Boekhoff-Falk, G. (2003). Drosophila spalt/spalt-related mutants exhibit Townes-Brocks syndrome phenotypes.  Proc. Natl. Acad. Sci. U.S.A. 100(18): 10293--10298.
FlyBase ID
FBrf0162282
Publication Type
Research paper
Abstract
Mutations in SALL1, the human homolog of the Drosophila spalt gene, result in Townes-Brocks' syndrome, which is characterized by hand/foot, anogenital, renal, and ear anomalies, including sensorineural deafness. spalt genes encode zinc finger transcription factors that are found in animals as diverse as worms, insects, and vertebrates. Here, we examine the effect of losing both of the spalt genes, spalt and spalt-related, in the fruit fly Drosophila melanogaster, and report defects similar to those in humans with Townes-Brocks' syndrome. Loss of both spalt and spalt-related function in flies yields morphological defects in the testes, genitalia, and the antenna. Furthermore, spalt/spalt-related mutant antennae show severe reductions in Johnston's organ, the major auditory organ in Drosophila. Electrophysiological analyses confirm that spalt/spalt-related mutant flies are deaf. These commonalities suggest that there is functional conservation for spalt genes between vertebrates and insects.
PubMed ID
PubMed Central ID
PMC193554 (PMC) (EuropePMC)
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Secondary IDs
    Language of Publication
    English
    Additional Languages of Abstract
    Parent Publication
    Publication Type
    Journal
    Abbreviation
    Proc. Natl. Acad. Sci. U.S.A.
    Title
    Proceedings of the National Academy of Sciences of the United States of America
    Publication Year
    1915-
    ISBN/ISSN
    0027-8424
    Data From Reference
    Aberrations (2)
    Alleles (6)
    Genes (5)
    Human Disease Models (1)
    Insertions (1)
    Transgenic Constructs (2)