A 4 bp deletion mutation in DLX3 enhances osteoblastic differentiation and bone formation in vitro
Identifieur interne : 006811 ( Main/Exploration ); précédent : 006810; suivant : 006812A 4 bp deletion mutation in DLX3 enhances osteoblastic differentiation and bone formation in vitro
Auteurs : Sun Jin Choi ; In Sun Song ; Ok Hee Ryu ; Sung Won Choi ; P. Suzanne Hart ; Wells W. Wu ; Rong-Fong Shen ; Thomas C. HartSource :
- Bone [ 8756-3282 ] ; 2007.
Abstract
A 4 base-pair deletion mutation in the Distal-Less 3 (
Url:
DOI: 10.1016/j.bone.2007.08.047
PubMed: 17950683
PubMed Central: 2253671
Affiliations:
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Le document en format XML
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enhances osteoblastic differentiation and bone formation <italic>in vitro</italic>
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<author><name sortKey="Choi, Sun Jin" sort="Choi, Sun Jin" uniqKey="Choi S" first="Sun Jin" last="Choi">Sun Jin Choi</name>
<affiliation><nlm:aff id="A1">Human Craniofacial Genetics Section, National Institute of Dental and Craniofacial Research, National Institutes of Health</nlm:aff>
<wicri:noCountry code="subfield">National Institutes of Health</wicri:noCountry>
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<author><name sortKey="Ryu, Ok Hee" sort="Ryu, Ok Hee" uniqKey="Ryu O" first="Ok Hee" last="Ryu">Ok Hee Ryu</name>
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<wicri:noCountry code="subfield">National Institutes of Health</wicri:noCountry>
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<author><name sortKey="Shen, Rong Fong" sort="Shen, Rong Fong" uniqKey="Shen R" first="Rong-Fong" last="Shen">Rong-Fong Shen</name>
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<wicri:noCountry code="subfield">National Institutes of Health</wicri:noCountry>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A 4 bp deletion mutation in <italic>DLX3</italic>
enhances osteoblastic differentiation and bone formation <italic>in vitro</italic>
</title>
<author><name sortKey="Choi, Sun Jin" sort="Choi, Sun Jin" uniqKey="Choi S" first="Sun Jin" last="Choi">Sun Jin Choi</name>
<affiliation><nlm:aff id="A1">Human Craniofacial Genetics Section, National Institute of Dental and Craniofacial Research, National Institutes of Health</nlm:aff>
<wicri:noCountry code="subfield">National Institutes of Health</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Song, In Sun" sort="Song, In Sun" uniqKey="Song I" first="In Sun" last="Song">In Sun Song</name>
<affiliation><nlm:aff id="A1">Human Craniofacial Genetics Section, National Institute of Dental and Craniofacial Research, National Institutes of Health</nlm:aff>
<wicri:noCountry code="subfield">National Institutes of Health</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Ryu, Ok Hee" sort="Ryu, Ok Hee" uniqKey="Ryu O" first="Ok Hee" last="Ryu">Ok Hee Ryu</name>
<affiliation><nlm:aff id="A1">Human Craniofacial Genetics Section, National Institute of Dental and Craniofacial Research, National Institutes of Health</nlm:aff>
<wicri:noCountry code="subfield">National Institutes of Health</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Choi, Sung Won" sort="Choi, Sung Won" uniqKey="Choi S" first="Sung Won" last="Choi">Sung Won Choi</name>
<affiliation><nlm:aff id="A1">Human Craniofacial Genetics Section, National Institute of Dental and Craniofacial Research, National Institutes of Health</nlm:aff>
<wicri:noCountry code="subfield">National Institutes of Health</wicri:noCountry>
</affiliation>
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<author><name sortKey="Suzanne Hart, P" sort="Suzanne Hart, P" uniqKey="Suzanne Hart P" first="P." last="Suzanne Hart">P. Suzanne Hart</name>
<affiliation><nlm:aff id="A2">Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health</nlm:aff>
<wicri:noCountry code="subfield">National Institutes of Health</wicri:noCountry>
</affiliation>
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<author><name sortKey="Wu, Wells W" sort="Wu, Wells W" uniqKey="Wu W" first="Wells W." last="Wu">Wells W. Wu</name>
<affiliation><nlm:aff id="A3">Proteomics Core Facility, National Heart, Lung, and Blood Institute, National Institutes of Health</nlm:aff>
<wicri:noCountry code="subfield">National Institutes of Health</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Shen, Rong Fong" sort="Shen, Rong Fong" uniqKey="Shen R" first="Rong-Fong" last="Shen">Rong-Fong Shen</name>
<affiliation><nlm:aff id="A3">Proteomics Core Facility, National Heart, Lung, and Blood Institute, National Institutes of Health</nlm:aff>
<wicri:noCountry code="subfield">National Institutes of Health</wicri:noCountry>
</affiliation>
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<author><name sortKey="Hart, Thomas C" sort="Hart, Thomas C" uniqKey="Hart T" first="Thomas C." last="Hart">Thomas C. Hart</name>
<affiliation><nlm:aff id="A1">Human Craniofacial Genetics Section, National Institute of Dental and Craniofacial Research, National Institutes of Health</nlm:aff>
<wicri:noCountry code="subfield">National Institutes of Health</wicri:noCountry>
</affiliation>
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<series><title level="j">Bone</title>
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<front><div type="abstract" xml:lang="en"><p id="P1">A 4 base-pair deletion mutation in the Distal-Less 3 (<italic>DLX3</italic>
) gene is etiologic for Tricho-Dento-Osseous syndrome (TDO). A cardinal feature of TDO is an increased thickness and density of bone. We tested the effects of the <italic>DLX3</italic>
gene mutation responsible for TDO on the osteoblastic differentiation of preosteoblastic MC3T3E1 cells and multipontent mesenchymal C2C12 cells. Differential expression analysis of C2C12 cells transfected with wild type DLX3 or mutant DLX3 was performed and desmin gene expression, an early myoblastic differentiation marker in mesenchymal cells, was evaluated by RT-PCR, western blot analysis, and desmin promoter transcriptional activity. Transfection of wild type DLX3 into MC3T3E1 and C2C12 cells increased alkaline phosphatase-2 activity, mineral deposition, and promoter activities of the osteocalcin and type1 collagen genes compared to empty vector transfected cells. Transfection of mutant DLX3 into these cells further enhanced alkaline phosphatase activity, mineral deposition, and osteocalcin promoter activities, but did not further enhance type 1 collagen promoter activity. Transfection of mutant DLX3 into C2C12 cells markedly down regulated desmin gene expression, and protein expression of desmin and MyoD, while increasing protein expression of osterix and Runx2. These results demonstrate that the DLX3 deletion mutation associated with TDO enhances mesenchymal cell differentiation to an osteoblastic lineage rather than a myoblastic lineage by changing the fate of mesenchymal cells. This DLX3 mutation also accelerates the differentiation of osteoprogenitor cells to osteoblasts at later stages of osteogenesis.</p>
</div>
</front>
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<affiliations><list></list>
<tree><noCountry><name sortKey="Choi, Sun Jin" sort="Choi, Sun Jin" uniqKey="Choi S" first="Sun Jin" last="Choi">Sun Jin Choi</name>
<name sortKey="Choi, Sung Won" sort="Choi, Sung Won" uniqKey="Choi S" first="Sung Won" last="Choi">Sung Won Choi</name>
<name sortKey="Hart, Thomas C" sort="Hart, Thomas C" uniqKey="Hart T" first="Thomas C." last="Hart">Thomas C. Hart</name>
<name sortKey="Ryu, Ok Hee" sort="Ryu, Ok Hee" uniqKey="Ryu O" first="Ok Hee" last="Ryu">Ok Hee Ryu</name>
<name sortKey="Shen, Rong Fong" sort="Shen, Rong Fong" uniqKey="Shen R" first="Rong-Fong" last="Shen">Rong-Fong Shen</name>
<name sortKey="Song, In Sun" sort="Song, In Sun" uniqKey="Song I" first="In Sun" last="Song">In Sun Song</name>
<name sortKey="Suzanne Hart, P" sort="Suzanne Hart, P" uniqKey="Suzanne Hart P" first="P." last="Suzanne Hart">P. Suzanne Hart</name>
<name sortKey="Wu, Wells W" sort="Wu, Wells W" uniqKey="Wu W" first="Wells W." last="Wu">Wells W. Wu</name>
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