Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome

Human Molecular Genetics

Volumn 10, Issue 24, 2001, Pages 2775-2781

  Buller, Cody ^a   Xu, Xin ^a   Marquis, Victoria ^a   Schwanke, Ryan ^a   Xu, Pin Xian ^a  

^a MCLAUGHLIN RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; GENE PRODUCT;

ARTICLE; BRANCHIOOTORENAL SYNDROME; CELLULAR DISTRIBUTION; COMPLEX FORMATION; CONTROLLED STUDY; GENE FUNCTION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; MAMMAL CELL; MISSENSE MUTATION; NONHUMAN; ORGANOGENESIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; YEAST CELL;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BRANCHIO-OTO-RENAL SYNDROME; CELL LINE; CELL NUCLEUS; CLONING, MOLECULAR; CONSERVED SEQUENCE; DROSOPHILA; DROSOPHILA PROTEINS; ESCHERICHIA COLI; EYE PROTEINS; HOMEODOMAIN PROTEINS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MACROMOLECULAR SUBSTANCES; MICE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PRECIPITIN TESTS; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; PROTEIN TRANSPORT; PROTEIN-TYROSINE-PHOSPHATASE; PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; TRANS-ACTIVATION (GENETICS); TRANS-ACTIVATORS; TWO-HYBRID SYSTEM TECHNIQUES;

MAMMALIA;

EID: 0035891830     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.24.2775     Document Type: Article

References (23)

1. The eyes absent gene: Genetic control of cell survival and differentiation in the developing Drosophila eye
2. Mouse homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placodes
3. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia
4. A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family
5. Eyes absent: A gene family found in several metazoan phyla
6. Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene
7. EYA4, a novel vertebrate gene related to Drosophila eyes absent
8. Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
9. Mouse Eya genes are expressed during limb tendon development and encode a transcriptional activation function
10. The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development
11. Dachshund and eyes absent proteins form a complex and function synergistically to induce ectopic eye formation in Drosophila
12. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1
13. Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome
14. BOR and BO syndromes are allelic defects of EYA1
15. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies
16. Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya
17. The optx2 homeobox gene is expressed in early precursors of the eye and activates retina-specific genes
18. Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts
19. Mice deficient in Six5 develop cataracts: Implications for myotonic dystrophy
20. Thyroid hormone response elements differentially modulate the interactions of thyroid hormone receptors with two receptor binding domains in the steroid receptor coactivator-1
21. +, K(+)-ATPase α 1-subunit gene during the cell cycle
22. The zebrafish eya1 gene and its expression pattern during embryogenesis
23. Homologs of animal eyes absent (eya) genes are found in higher plants