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Hum Mol Genet. 1999 Jan;8(1):11-23.

EYA4, a novel vertebrate gene related to Drosophila eyes absent.

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Telethon Institute of Genetics and Medicine, Universit√° Vita e Salute San Raffaele and Department of Biological Technological Research (DIBIT), San Raffaele Biomedical Science Park, Milan, Italy.


We have isolated a family of four vertebrate genes homologous to eyes absent (eya), a key regulator of ocular development in Drosophila. Here we present the detailed characterization of the EYA4 gene in human and mouse. EYA4 encodes a 640 amino acid protein containing a highly conserved C-terminal domain of 271 amino acids which in Drosophila eya is known to mediate developmentally important protein-protein interactions. Human EYA4 maps to 6q23 and mouse Eya4 maps to the predicted homology region near the centromere of chromosome 10. In the developing mouse embryo, Eya4 is expressed primarily in the craniofacial mesenchyme, the dermamyotome and the limb. On the basis of map position and expression pattern, EYA4 is a candidate for oculo-dento-digital (ODD) syndrome, but no EYA4 mutations were found in a panel of ODD patients.

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