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A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.

par Abdelhak, S;Kalatzis, V;Heilig, R;Compain, S;Samson, D;Vincent, C. M.;Weil, D;Cruaud, C.;Sahly, I;Leibovici, M;Bitner-Glindzicz, M;Francis, Michael;Lacombe, Denis;Vigneron, Jean-Robert ;Charachon, R;Boven, K;Bedbeder, P;Van Regemorter, Nicole ;Weissenbach, J.;Petit, Christine
Référence Nature genetics, 15, 2, page (157-164)
Publication Publié, 1997-02

Article révisé par les pairs

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Résumé :

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.