EYA4, a novel vertebrate gene related to Drosophila eyes absent

Giuseppe Borsani, Alessandro DeGrandi, Andrea Ballabio, Alessandro Bulfone, Loris Bernard, Sandro Banfi, Claudio Gattuso, Margherita Mariani, Michael Dixon, Dian Donnai, Kay Metcalfe, Robin Winter, Marie Robertson, Richard Axton, Alison Brown, Veronica Van Heyningen, Isabel Hanson

Research output: Contribution to journalArticlepeer-review


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 EYA mutations were found in a panel of ODD patients.

Original languageEnglish
Pages (from-to)11-23
Number of pages13
JournalHuman Molecular Genetics
Issue number1
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Genetics


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