A HUMAN HOMOLOG OF THE DROSOPHILA EYES ABSENT GENE UNDERLIES BRANCHIOOTORENAL (BOR) SYNDROME AND IDENTIFIES A NOVEL GENE FAMILY

A candidate gene for Branchio-Oto-Renal (BOR) syndrome was identified at chromosome 8q13.3 by positional cloning and shown to underlie the d isease. This gene is a human homologue of the Drosophila eyes absent g ene (eya), and was therefore called EYA1. A highly conserved 271-amino acid C-terminal region was also found in the products of two other hu man genes (EYA2 and EYA3), demonstrating the existence of a novel gene family. The expression pattern of the murine EYA1 orthologue, Eya1, s uggests a role in the development of all components of the inner ear, from the emergence of the otic placode. In the developing kidney, the expression pattern is indicative of a role for Eya1 in the metanephric cells surrounding the 'just-divided' ureteric branches.