EYA4, a novel vertebrate gene related to Drosophila eyes absent
| Autor: | Kay Metcalfe, Alison Brown, Veronica van Heyningen, Robin M. Winter, Alessandro Bulfone, Marie Robertson, Alessandro DeGrandi, Sandro Banfi, Dian Donnai, Andrea Ballabio, Giuseppe Borsani, Isabel M. Hanson, Loris Bernard, Claudio Gattuso, Richard Axton, Margherita Mariani, Michael J. Dixon |
|---|---|
| Přispěvatelé: | Borsani, G, Degrandi, A, Ballabio, A, Bulfone, A, Bernard, L, Banfi, Sandro, Gattuso, C, Mariani, M, Dixon, M, Donnai, D, Metcalfe, K, Winter, R, Robertson, M, Axton, R, Brown, A, van Heyningen, V, Hanson, I. |
| Rok vydání: | 1999 |
| Předmět: |
DNA
Complementary Molecular Sequence Data Sequence Homology Genes Insect Biology Eye Homology (biology) Mice Species Specificity Gene mapping Complementary Centromere Gene expression Genetics Animals Humans Drosophila Proteins Amino Acid Sequence Eye Abnormalities Eye Proteins Molecular Biology Gene Peptide sequence In Situ Hybridization Genetics (clinical) Sequence Homology Amino Acid Base Sequence Alternative splicing Alternative Splicing Chromosome Mapping Drosophila Mutation Trans-Activators DNA General Medicine Amino Acid Genes Insect Drosophila Protein |
| Zdroj: | Human Molecular Genetics. 8:11-23 |
| ISSN: | 1460-2083 |
| DOI: | 10.1093/hmg/8.1.11 |
| Popis: | We have isolated a family of four vertebrate genes homologous to eyes absent (eya), a key regulator of ocular development in Drosophila. Here we present the detailed characterization of the EYA4 gene in human and mouse. EYA4 encodes a 640 amino acid protein containing a highly conserved C-terminal domain of 271 amino acids which in Drosophila eya is known to mediate developmentally important protein-protein interactions. Human EYA4 maps to 6q23 and mouse Eya4 maps to the predicted homology region near the centromere of chromosome 10. In the developing mouse embryo, Eya4 is expressed primarily in the craniofacial mesenchyme, the dermamyotome and the limb. On the basis of map position and expression pattern, EYA4 is a candidate for oculo-dento-digital (ODD) syndrome, but no EYA4 mutations were found in a panel of ODD patients. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|