Impaired interactions between mouse Eya1 harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins

Journal of Human Genetics

Volumn 47, Issue 3, 2002, Pages 107-116

  Ozaki, H ^a   Watanabe, Y ^a   Ikeda, K ^a   Kawakami, K ^a  

^a JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

BOR syndrome; Dach; EYA domain; EYA1; G protein; GST pulldown; Mammalian two hybrid assay; Six

Indexed keywords

GENE PRODUCT; GLUTATHIONE TRANSFERASE; GUANINE NUCLEOTIDE BINDING PROTEIN; MYOGENIN; PROTEINASE;

ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRANCHIAL ARCH; BRANCHIOOTORENAL SYNDROME; EAR MALFORMATION; EMBRYO; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; KIDNEY MALFORMATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROTEIN PROTEIN INTERACTION;

ANIMALIA; MAMMALIA;

EID: 0036220440     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200011     Document Type: Article

References (28)

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2. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family
3. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies
4. The eyes absent gene: Genetic control of cell survival and differentiation in the developing Drosophila eye
5. Molecular analysis of Drosophila eyes absent mutants reveals features of the conserved Eva domain
6. Mouse Dac, a novel nuclear factor with homology to Drosophila dachshund shows a dynamic expression in the neural crest, the eye, the neocortex, and the limb bud
7. Dachshund and eyes absent proteins form a complex and function synergistically to induce ectopic eye development in Drosophila
8. The Drosophila sine oculis locus encodes a homeodomain-containing protein required for the development of the entire visual system
9. The α subunits of Gz and Gi interact with the eyes absent transcription cofactor Eya2, preventing its interaction with the six class of homeodomain-containing proteins
10. Upstream region of the myogenin gene confers transcriptional activation in muscle cell lineages during mouse embryogenesis
11. Synergistic regulation of vertebrate muscle development by Dach2, Eya2, and Six1, homologs of genes required for Drosophila eye formation
12. The H1 and H2 regions of the activation domain of herpes simplex virion protein 16 stimulate transcription through distinct molecular mechanisms
13. Molecular cloning and sequence determination of cDNAs for α subunits of the guanine nucleotide-binding proteins Gs, Gi, and Go from rat brain
14. Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome
15. Structure, function and expression of a murine homeobox protein AREC3, a homologue of Drosophila sine oculis gene product, and implication in development
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19. dachshund encodes a nuclear protein required for normal eye and leg development in Drosophila
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25. The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development
26. Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts
27. Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode
28. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia