Null mutations in Drosophila Optomotor-blind affect T-domain residues conserved in all Tbx proteins

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...

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Veröffentlicht in:Molecular genetics and genomics : MGG 2010-02, Vol.283 (2), p.147-156
Hauptverfasser: Sen, Aditya, Gadomski, Christian, Balles, Jürgen, Abassi, Yasmin, Dorner, Christian, Pflugfelder, Gert O
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container_issue 2
container_start_page 147
container_title Molecular genetics and genomics : MGG
container_volume 283
creator Sen, Aditya
Gadomski, Christian
Balles, Jürgen
Abassi, Yasmin
Dorner, Christian
Pflugfelder, Gert O
description 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.
doi_str_mv 10.1007/s00438-009-0505-z
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subjects Amino Acid Sequence
Animal Genetics and Genomics
Animals
Biochemistry
Biomedical and Life Sciences
Brachyura - genetics
Conserved Sequence
Drosophila
Drosophila melanogaster - genetics
Drosophila melanogaster - metabolism
Drosophila Proteins - chemistry
Drosophila Proteins - genetics
Drosophila Proteins - metabolism
Human Genetics
Humans
Life Sciences
Microbial Genetics and Genomics
Molecular Sequence Data
Mutation, Missense
Nerve Tissue Proteins - chemistry
Nerve Tissue Proteins - genetics
Nerve Tissue Proteins - metabolism
Original Paper
Plant Genetics and Genomics
Protein Structure, Tertiary
T-Box Domain Proteins - chemistry
T-Box Domain Proteins - genetics
T-Box Domain Proteins - metabolism
title Null mutations in Drosophila Optomotor-blind affect T-domain residues conserved in all Tbx proteins
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