Nature genetics · 1997
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
Сравнительное исследованиеСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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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
Аннотация
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.
Предметные рубрики MeSH
AdultAmino Acid SequenceAnimalsBase SequenceBranchial RegionBranchio-Oto-Renal SyndromeCloning, MolecularDNA, ComplementaryDrosophila ProteinsDrosophila melanogasterEar, InnerEar, MiddleEmbryonic and Fetal DevelopmentExonsEye ProteinsFetal ProteinsGene Expression Regulation, DevelopmentalGene LibraryGenesHumansIntracellular Signaling Peptides and ProteinsKidneyMiceMolecular Sequence DataMultigene FamilyNuclear ProteinsProtein BiosynthesisProtein Tyrosine PhosphatasesProteinsSequence AlignmentSequence Homology, Amino AcidSpecies SpecificityTrans-Activators