Eyes Absent Homolog 3 (EYA3)

Abdelhak et al. (1997) identified 3 members of a novel family homologous to Drosophila 'eyes absent' gene (eya). One of these, EYA1, was demonstrated to be mutant in cases of branchiootorenal dysplasia (BOR). EYA2 and EYA3, like EYA1, are expressed in the ninth week of human development and may also underlie developmental defects.Xu et al. (1997) showed that in the limbs of 10.5-day mouse embryos, Eya1 expression was largely restricted to the flexor tendons, whereas Eya2 was expressed in the extensor tendons and probably also in the ligments of the phalanges. They demonstrated that the proline/serine/threonine-rich N-terminal regions of the protein products of the Eya1, Eya2, and Eya3 genes have transcriptional activator activity. These results supported a role for the Eya genes in connective tissue patterning in the limbs.