title: Null mutations in Drosophila Optomotor-blind affect T-domain residues conserved in all Tbx proteins.
abstract: The T-box transcription factors TBX2 and TBX3 are overexpressed in many human cancers raising the need for a thorough understanding of the cellular function of these proteins. In Drosophila, there is one corresponding ortholog, Optomotor-blind (Omb). Currently, only two missense mutations are known for the two human proteins. Making use of the developmental defects caused by inactivation of omb, we have isolated and molecularly characterized four new omb mutations, three of them are missense mutations of amino acids fully conserved in all Tbx proteins. We interpret the functional defects in the framework of the known structure of the human TBX3 protein and provide evidence for loss of Omb DNA-binding activity in all three newly identified missense mutations.
authors.affiliation: Institute of Genetics, Johannes Gutenberg-Universität, Becherweg 32, 55128, Mainz, Germany.
authors.forename: Aditya
authors.initials: A
authors.lastname: Sen
authors.forename: Christian
authors.initials: C
authors.lastname: Gadomski
authors.forename: Jürgen
authors.initials: J
authors.lastname: Balles
authors.forename: Yasmin
authors.initials: Y
authors.lastname: Abassi
authors.forename: Christian
authors.initials: C
authors.lastname: Dorner
authors.forename: Gert O
authors.initials: GO
authors.lastname: Pflugfelder
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D003386:Brachyura / Q000235:genetics; D017124:Conserved Sequence; D029721:Drosophila Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D004331:Drosophila melanogaster / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D017434:Protein Structure, Tertiary; D020825:T-Box Domain Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*
chemical_list: D029721:Drosophila Proteins; D009419:Nerve Tissue Proteins; C097348:T-Box Domain Protein 2; D020825:T-Box Domain Proteins; C106884:TBX3 protein, human; C072962:bi protein, Drosophila