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PMID: 9020840 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

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

Nature genetics ·Vol. 15 ·No. 2 ·1997-02-00 ·Pages 157-64

Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C

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.

MeSH Terms

Adult Amino Acid Sequence Animals Base Sequence Branchial Region/embryology Branchio-Oto-Renal Syndrome/genetics Cloning, Molecular DNA, Complementary/genetics Drosophila Proteins Drosophila melanogaster/genetics Ear, Inner/embryology Ear, Middle/embryology Embryonic and Fetal Development/genetics Exons/genetics Eye Proteins/genetics,physiology Fetal Proteins/biosynthesis,genetics Gene Expression Regulation, Developmental Gene Library Genes Humans Intracellular Signaling Peptides and Proteins Kidney/embryology Mice Molecular Sequence Data Multigene Family Nuclear Proteins Protein Biosynthesis Protein Tyrosine Phosphatases Proteins/genetics,physiology Sequence Alignment Sequence Homology, Amino Acid Species Specificity Trans-Activators

Chemicals

DNA, Complementary Drosophila Proteins Eye Proteins Fetal Proteins Intracellular Signaling Peptides and Proteins Nuclear Proteins Proteins Trans-Activators eya protein, Drosophila EYA1 protein, human Eya1 protein, mouse Protein Tyrosine Phosphatases

Authors & Affiliations

20 authors, click to expand affiliations / ORCID

Abdelhak S

Unité de Génétique Moléculaire Humaine, URA CNRS 1968, Institut Pasteur, Paris, France.

Kalatzis V

Heilig R

Compain S

Samson D

Vincent C

Weil D

Cruaud C

Sahly I

Leibovici M

Bitner-Glindzicz M

Francis M

Lacombe D

Vigneron J

Charachon R

Boven K

Bedbeder P

Van Regemorter N

Weissenbach J

Petit C

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng0297-157

Published

1997-02-00

Pages

157-64

Language

English

Region

United States

NLM ID

9216904

Subset

Databases

GENBANK

AJ000097, Y10260, Y10261, Y10262, Y10263

External Links

PubMed source DOI: 10.1038/ng0297-157 View journal details

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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.

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