Developmental Signals - Tbx
Embryology - 15 Jun 2024 Expand to Translate |
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Introduction
Brachyury was the first of this transcription factor family to be identified in mouse.[2] Genes in the TBX gene family provide instructions for making proteins called T-box proteins that play critical roles during embryonic development. These proteins are especially important for normal development of the arms, hands, and heart. T-box proteins regulate the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, T-box proteins are called transcription factors. Genes in the T-box family are grouped together because the proteins produced from these genes share a similar segment called a T box. The T box is the part of the protein that binds to DNA. T-box proteins often interact with one another or with other transcription factors that regulate gene activity.
Researchers have identified at least 17 genes in the T-box gene family. Mutations in these genes lead to disorders that involve the abnormal development of tissues in which a particular T-box gene is active (expressed). Many genetic disorders caused by T-box gene mutations are characterized by heart problems and/or skeletal abnormalities of the hands and arms.
(text from Genetics Home Reference http://ghr.nlm.nih.gov/geneFamily/tbx)
Factor Links: AMH | hCG | BMP | sonic hedgehog | bHLH | HOX | FGF | FOX | Hippo | LIM | Nanog | NGF | Nodal | Notch | PAX | retinoic acid | SIX | Slit2/Robo1 | SOX | TBX | TGF-beta | VEGF | WNT | Category:Molecular |
Some Recent Findings
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More recent papers |
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This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Tbx Embryology <pubmed limit=5>Tbx Embryology</pubmed> |
Limb Development
Mouse forelimb bud Tbx3 and Tbx2 expression[6]
Chicken stage 21 wing bud[7]
Hindlimb Tbx2 model[8]
- Links: Limb Development
Respiratory Development
Mouse respiratory Tbx4 and Tbx5 model[9]
(Text from figure legend) |
Heart Development
Tbx3 and Tbx18 are both involved with sinoatrial node development.
Cardiac conduction system[10] "Here, we assessed the genome-wide occupation of conduction system-regulating transcription factors TBX3, NKX2-5, and GATA4 and of enhancer-associated coactivator p300 in the mouse heart, uncovering cardiac enhancers throughout the genome. Many of the enhancers colocalized with ion channel genes repressed by TBX3, including the clustered sodium channel genes Scn5a, essential for cardiac function, and Scn10a. We identified 2 enhancers in the Scn5a/Scn10a locus, which were regulated by TBX3 and its family member and activator, TBX5, and are functionally conserved in humans. We also provided evidence that a SNP in the SCN10A enhancer associated with alterations in cardiac conduction patterns in humans disrupts TBX3/TBX5 binding and reduces the cardiac activity of the enhancer in vivo."
Gastrointestinal Development
Tbx1 and Tbx2 genes regulate foregut and pharyngeal development. Mutations in Tbx1 gene are associated with the foregut abnormality of oesophageal atresia with tracheo-oesophageal fistula (Q39.1).[11]
- Links: Gastrointestinal Tract Development | Gastrointestinal_Tract_-_Oesophagus_Development#Abnormalities Oesophagus Abnormalities | OMIM - TBX1
Renal Development
Tbx18, Tbx1, Tbx2, Tbx3, and Tbx20 have various roles in renal development, see this recent review.[12]
- TBX18 mutations associated with kidney and urinary tract anomalies - hydroureter (ureter dilation) and ureteropelvic junction obstruction.
- Links: Renal Development | OMIM - TBX18]
References
- ↑ 1.0 1.1 <pubmed>22174793</pubmed>| PMC3235105 | PLoS One.
- ↑ <pubmed>11268043</pubmed>
- ↑ <pubmed>26299309</pubmed>
- ↑ <pubmed>25142463</pubmed>| Development
- ↑ <pubmed>22371266</pubmed>
- ↑ <pubmed>20386744</pubmed>| PLoS Genet.
- ↑ <pubmed>21526123</pubmed>| PLoS One.
- ↑ 23633963</pubmed>| PLoS Genet.
- ↑ <pubmed>22876201</pubmed>| PLoS Genet.
- ↑ <pubmed>22706305</pubmed>
- ↑ <pubmed>24356861</pubmed>
- ↑ <pubmed>28057266</pubmed>
Search Bookshelf Tbx
Reviews
<pubmed>28057266</pubmed> <pubmed>17506689</pubmed> <pubmed>10197584</pubmed>
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External Links
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- OMIM - http://omim.org/entry/602054
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Cite this page: Hill, M.A. (2024, June 15) Embryology Developmental Signals - Tbx. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Developmental_Signals_-_Tbx
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G