Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes

P. D. Si Dong; Sokol V Todi; Daniel F Eberl; Grace Boekhoff-Falk

doi:10.1073/pnas.1836391100

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Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes

Journal article

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Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes

P. D. Si Dong, Sokol V Todi, Daniel F Eberl and Grace Boekhoff-Falk

Proceedings of the National Academy of Sciences - PNAS, Vol.100(18), pp.10293-10298

09/02/2003

DOI: 10.1073/pnas.1836391100

PMCID: PMC193554

PMID: 12925729

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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.

Biological Sciences

atonal

split foot malformation

homothorax

chordotonal organ

split hand

Distal-less

Details

Title: Subtitle: Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes
Creators: P. D. Si Dong - Department of Anatomy, University of Wisconsin, Madison, WI 53706; and
Sokol V Todi - Department of Anatomy, University of Wisconsin, Madison, WI 53706; and
Daniel F Eberl - Department of Anatomy, University of Wisconsin, Madison, WI 53706; and
Grace Boekhoff-Falk - Department of Anatomy, University of Wisconsin, Madison, WI 53706; and
Resource Type: Journal article
Publication Details: Proceedings of the National Academy of Sciences - PNAS, Vol.100(18), pp.10293-10298
DOI: 10.1073/pnas.1836391100
PMID: 12925729
PMCID: PMC193554
NLM abbreviation: Proc Natl Acad Sci U S A
ISSN: 0027-8424
eISSN: 1091-6490
Publisher: National Academy of Sciences
Language: English
Date published: 09/02/2003
Academic Unit: Iowa Neuroscience Institute; Biology
Record Identifier: 9984070717702771

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