| Literature DB >> 9020840 |
S Abdelhak1, V Kalatzis, R Heilig, S Compain, D Samson, C Vincent, D Weil, C Cruaud, I Sahly, M Leibovici, M Bitner-Glindzicz, M Francis, D Lacombe, J Vigneron, R Charachon, K Boven, P Bedbeder, N Van Regemorter, J Weissenbach, C Petit.
Abstract
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.Entities:
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Year: 1997 PMID： 9020840 DOI： 10.1038/ng0297-157
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330