Dong P D Si, Todi Sokol V, Eberl Daniel F, Boekhoff-Falk Grace
Department of Anatomy, University of Wisconsin, Madison, WI 53706, USA.
Proc Natl Acad Sci U S A. 2003 Sep 2;100(18):10293-8. doi: 10.1073/pnas.1836391100. Epub 2003 Aug 18.
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.
SALL1是果蝇spalt基因的人类同源基因，其突变会导致汤姆斯-布罗克综合征，该综合征的特征包括手/足、肛门生殖器、肾脏和耳部异常，其中包括感音神经性耳聋。spalt基因编码锌指转录因子，在从蠕虫、昆虫到脊椎动物等多种动物中均有发现。在此，我们研究了在果蝇黑腹果蝇中缺失两个spalt基因（spalt和spalt-related）的影响，并报告了与患有汤姆斯-布罗克综合征的人类相似的缺陷。果蝇中spalt和spalt-related功能的缺失会导致睾丸、生殖器和触角出现形态缺陷。此外，spalt/spalt-related突变触角中的约翰斯顿器官（果蝇的主要听觉器官）严重减少。电生理分析证实spalt/spalt-related突变果蝇耳聋。这些共性表明脊椎动物和昆虫之间spalt基因存在功能保守性。
