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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Amino Acid Sequence
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Animals
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Base Sequence
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Branchial Region / embryology
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Branchio-Oto-Renal Syndrome / genetics*
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Cloning, Molecular
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DNA, Complementary / genetics
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Drosophila Proteins*
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Drosophila melanogaster / genetics*
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Ear, Inner / embryology
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Ear, Middle / embryology
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Embryonic and Fetal Development / genetics
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Exons / genetics
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Eye Proteins / genetics*
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Eye Proteins / physiology
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Fetal Proteins / biosynthesis
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Fetal Proteins / genetics
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Gene Expression Regulation, Developmental
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Gene Library
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Genes*
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Humans
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Intracellular Signaling Peptides and Proteins
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Kidney / embryology
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Mice
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Molecular Sequence Data
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Multigene Family*
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Nuclear Proteins
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Protein Biosynthesis
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Protein Tyrosine Phosphatases
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Proteins / genetics*
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Proteins / physiology
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Sequence Alignment
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Sequence Homology, Amino Acid
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Species Specificity
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Trans-Activators*
Substances
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DNA, Complementary
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Drosophila Proteins
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Eye Proteins
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Fetal Proteins
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Intracellular Signaling Peptides and Proteins
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Nuclear Proteins
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Proteins
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Trans-Activators
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eya protein, Drosophila
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EYA1 protein, human
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Eya1 protein, mouse
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Protein Tyrosine Phosphatases
Associated data
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GENBANK/AJ000097
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GENBANK/Y10260
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GENBANK/Y10261
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GENBANK/Y10262
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GENBANK/Y10263