| First Author | Abdelhak S | Year | 1997 |
| Journal | Nat Genet | Volume | 15 |
| Issue | 2 | Pages | 157-64 |
| PubMed ID | 9020840 | Mgi Jnum | J:38771 |
| Mgi Id | MGI:86156 | Doi | 10.1038/ng0297-157 |
| Citation | Abdelhak S, et al. (1997) A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 15(2):157-64 |
| abstractText | A candidate gene for Branchio-Oto-Renal (BOR) syndrome was identified at chromosome 8q13.3 by positional cloning and shown to underlie the disease. This gene is a human homologue of the Drosophila eyes absent gene (eya), and was therefore called EYA1. A highly conserved 271-amino acid C-terminal region was also found in the products of two other human genes (EYA2 and EYA3), demonstrating the existence of a novel gene family. The expression pattern of the murine EYA1 orthologue, Eya1, suggests 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. |
