EYA4, a novel vertebrate gene related to Drosophila eyes absent

Giuseppe Borsani; Alessandro DeGrandi; Andrea Ballabio; Alessandro Bulfone; Loris Bernard; Sandro Banfi; Claudio Gattuso; Margherita Mariani; Michael Dixon; Dian Donnai; Kay Metcalfe; Robin Winter; Marie Robertson; Richard Axton; Alison Brown; Veronica Van Heyningen; Isabel Hanson

doi:10.1093/hmg/8.1.11

EYA4, a novel vertebrate gene related to Drosophila eyes absent

Giuseppe Borsani, Alessandro DeGrandi, Andrea Ballabio, Alessandro Bulfone, Loris Bernard, Sandro Banfi, Claudio Gattuso, Margherita Mariani, Michael Dixon, Dian Donnai, Kay Metcalfe, Robin Winter, Marie Robertson, Richard Axton, Alison Brown, Veronica Van Heyningen, Isabel Hanson

Istituto Europeo di Oncologia

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	11-23
Number of pages	13
Journal	Human Molecular Genetics
Volume	8
Issue number	1
DOIs	https://doi.org/10.1093/hmg/8.1.11
Publication status	Published - 1999

ASJC Scopus subject areas

Genetics

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EYA4, a novel vertebrate gene related to Drosophila eyes absent. / Borsani, Giuseppe; DeGrandi, Alessandro; Ballabio, Andrea; Bulfone, Alessandro; Bernard, Loris; Banfi, Sandro; Gattuso, Claudio; Mariani, Margherita; Dixon, Michael; Donnai, Dian; Metcalfe, Kay; Winter, Robin; Robertson, Marie; Axton, Richard; Brown, Alison; Van Heyningen, Veronica; Hanson, Isabel.

In: Human Molecular Genetics, Vol. 8, No. 1, 1999, p. 11-23.

Research output: Contribution to journal › Article › peer-review

Borsani, Giuseppe ; DeGrandi, Alessandro ; Ballabio, Andrea ; Bulfone, Alessandro ; Bernard, Loris ; Banfi, Sandro ; Gattuso, Claudio ; Mariani, Margherita ; Dixon, Michael ; Donnai, Dian ; Metcalfe, Kay ; Winter, Robin ; Robertson, Marie ; Axton, Richard ; Brown, Alison ; Van Heyningen, Veronica ; Hanson, Isabel. / EYA4, a novel vertebrate gene related to Drosophila eyes absent. In: Human Molecular Genetics. 1999 ; Vol. 8, No. 1. pp. 11-23.

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abstract = "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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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

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