Developmental Signals - Tbx

Introduction

Mouse forelimb Tbx5 expression.

Mouse hindlimb Tbx4 expression.

Draft Page.

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)

| Category:Tbx

Some Recent Findings

Tbx1 regulates oral epithelial adhesion and palatal development "Cleft palate, the most frequent congenital craniofacial birth defect, is a multifactorial condition induced by the interaction of genetic and environmental factors. In addition to complete cleft palate, a large number of human cases involve soft palate cleft and submucosal cleft palate. ...These findings suggest that Tbx1 regulates the balance between proliferation and differentiation of keratinocytes and is essential for palatal fusion and oral mucosal differentiation. The impaired adhesion separation of the oral epithelium together with compromised palatal mesenchymal growth is an underlying cause for various forms of cleft palate phenotypes in Tbx1(-/-) mice. Our present study reveals new pathogenesis of incomplete and submucous cleft palate during mammalian palatogenesis."

References

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Reviews

<pubmed>17506689</pubmed> <pubmed>10197584</pubmed>

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• OMIM - http://omim.org/entry/602054

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Cite this page: Hill, M.A. (2024, April 19) Embryology Developmental Signals - Tbx. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Developmental_Signals_-_Tbx

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© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G