TY - JOUR
T1 - EYA4, a novel vertebrate gene related to Drosophila eyes absent
AU - Borsani, Giuseppe
AU - DeGrandi, Alessandro
AU - Ballabio, Andrea
AU - Bulfone, Alessandro
AU - Bernard, Loris
AU - Banfi, Sandro
AU - Gattuso, Claudio
AU - Mariani, Margherita
AU - Dixon, Michael
AU - Donnai, Dian
AU - Metcalfe, Kay
AU - Winter, Robin
AU - Robertson, Marie
AU - Axton, Richard
AU - Brown, Alison
AU - Van Heyningen, Veronica
AU - Hanson, Isabel
PY - 1999
Y1 - 1999
N2 - 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 EYA mutations were found in a panel of ODD patients.
AB - 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 EYA mutations were found in a panel of ODD patients.
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U2 - 10.1093/hmg/8.1.11
DO - 10.1093/hmg/8.1.11
M3 - Article
C2 - 9887327
AN - SCOPUS:0032905164
VL - 8
SP - 11
EP - 23
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 1
ER -