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 |
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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. |
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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. 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chemistry</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Nerve Tissue Proteins - metabolism</subject><subject>Original Paper</subject><subject>Plant Genetics and Genomics</subject><subject>Protein Structure, Tertiary</subject><subject>T-Box Domain Proteins - chemistry</subject><subject>T-Box Domain Proteins - genetics</subject><subject>T-Box Domain Proteins - metabolism</subject><issn>1617-4615</issn><issn>1617-4623</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkc1u1TAQhS0EoqXwAGwgYsPKMP6Jx1mi0gJSRRfcri3HdoqrJL7YCYI-Pb5KqRALWNmSv3NmfA4hzxm8YQD4tgBIoSlAR6GFlt4-IMdMMaRScfHw_s7aI_KklBsAhorjY3LEAYSQXB8T93kdx2ZaF7vENJcmzs37nEraf42jbS73S5rSkjLtxzj7xg5DcEuzoz5NtqI5lOjXUBpXtSF_D_5gYKvjrv_R7HNaQpzLU_JosGMJz-7OE3J1frY7_UgvLj98On13QZ3kaqGs75RiHVfOCuAKg1SCt2h713nhFbaI4CXqoEFL6JBZ9BLc4IISvVZenJDXm28d_K1utZgpFhfG0c4hrcXoViFyJbr_kljDqckiVPLVX-RNWvNcv2FYJ5mSCKpCbINcja7kMJh9jpPNPw0Dc2jKbE2Z2pQ5NGVuq-bFnfHaT8HfK35XUwG-AaU-zdch_zH5H64vN9Fgk7HXORZz9YUDE7V6jppp8QsC5qbp</recordid><startdate>20100201</startdate><enddate>20100201</enddate><creator>Sen, Aditya</creator><creator>Gadomski, Christian</creator><creator>Balles, Jürgen</creator><creator>Abassi, Yasmin</creator><creator>Dorner, Christian</creator><creator>Pflugfelder, Gert O</creator><general>Berlin/Heidelberg : Springer-Verlag</general><general>Springer-Verlag</general><general>Springer Nature B.V</general><scope>FBQ</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7SS</scope><scope>7TK</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20100201</creationdate><title>Null mutations in Drosophila Optomotor-blind affect T-domain residues conserved in all Tbx proteins</title><author>Sen, Aditya ; Gadomski, Christian ; Balles, Jürgen ; Abassi, Yasmin ; Dorner, Christian ; Pflugfelder, Gert O</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c426t-1b9661926ca30267e463257abc9d3d675770d478e80840971a7d40cfce63b86d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Amino Acid Sequence</topic><topic>Animal Genetics and Genomics</topic><topic>Animals</topic><topic>Biochemistry</topic><topic>Biomedical and Life Sciences</topic><topic>Brachyura - 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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.</abstract><cop>Berlin/Heidelberg</cop><pub>Berlin/Heidelberg : Springer-Verlag</pub><pmid>20033428</pmid><doi>10.1007/s00438-009-0505-z</doi><tpages>10</tpages></addata></record> |
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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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