A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
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.
Abdelhak
S
S
Unité de Génétique Moléculaire Humaine, URA CNRS 1968, Institut Pasteur, Paris, France.
Kalatzis
V
V
Heilig
R
R
Compain
S
S
Samson
D
D
Vincent
C
C
Weil
D
D
Cruaud
C
C
Sahly
I
I
Leibovici
M
M
Bitner-Glindzicz
M
M
Francis
M
M
Lacombe
D
D
Vigneron
J
J
Charachon
R
R
Boven
K
K
Bedbeder
P
P
Van Regemorter
N
N
Weissenbach
J
J
Petit
C
C
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
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