title: A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
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.
authors.affiliation: Unité de Génétique Moléculaire Humaine, URA CNRS 1968, Institut Pasteur, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Abdelhak
authors.forename: V
authors.initials: V
authors.lastname: Kalatzis
authors.forename: R
authors.initials: R
authors.lastname: Heilig
authors.forename: S
authors.initials: S
authors.lastname: Compain
authors.forename: D
authors.initials: D
authors.lastname: Samson
authors.forename: C
authors.initials: C
authors.lastname: Vincent
authors.forename: D
authors.initials: D
authors.lastname: Weil
authors.forename: C
authors.initials: C
authors.lastname: Cruaud
authors.forename: I
authors.initials: I
authors.lastname: Sahly
authors.forename: M
authors.initials: M
authors.lastname: Leibovici
authors.forename: M
authors.initials: M
authors.lastname: Bitner-Glindzicz
authors.forename: M
authors.initials: M
authors.lastname: Francis
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: J
authors.initials: J
authors.lastname: Vigneron
authors.forename: R
authors.initials: R
authors.lastname: Charachon
authors.forename: K
authors.initials: K
authors.lastname: Boven
authors.forename: P
authors.initials: P
authors.lastname: Bedbeder
authors.forename: N
authors.initials: N
authors.lastname: Van Regemorter
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: C
authors.initials: C
authors.lastname: Petit
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001934:Branchial Region / Q000196:embryology; D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics*; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D029721:Drosophila Proteins; D004331:Drosophila melanogaster / Q000235:genetics*; D007758:Ear, Inner / Q000196:embryology; D004432:Ear, Middle / Q000196:embryology; D005314:Embryonic and Fetal Development / Q000235:genetics; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics* / Q000502:physiology; D005326:Fetal Proteins / Q000096:biosynthesis / Q000235:genetics; D018507:Gene Expression Regulation, Developmental; D015723:Gene Library; D005796:Genes; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007668:Kidney / Q000196:embryology; D051379:Mice; D008969:Molecular Sequence Data; D005810:Multigene Family; D009687:Nuclear Proteins; D014176:Protein Biosynthesis; D017027:Protein Tyrosine Phosphatases; D011506:Proteins / Q000235:genetics* / Q000502:physiology; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity; D015534:Trans-Activators
chemical_list: D018076:DNA, Complementary; D029721:Drosophila Proteins; D005136:Eye Proteins; D005326:Fetal Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D011506:Proteins; D015534:Trans-Activators; C092694:eya protein, Drosophila; C104381:EYA1 protein, human; C501156:Eya1 protein, mouse; D017027:Protein Tyrosine Phosphatases