T-box Protein Tbx18 Interacts with the Paired Box Protein Pax3 in the Development of the Paraxial Mesoderm

Farin, Henner F.; Mansouri, Ahmed; Petry, Marianne; Kispert, Andreas

doi:10.1074/jbc.m802723200

Cited by 34 publications

(23 citation statements)

References 45 publications

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“…In addition, a zebrafish lineage study has shown that cells from a single parent sclerotome cell can contribute to two adjacent perichordal centra (Morin-Kensicki et al, 2002). This finding shows that, as in the chick, there is no strict lineal correspondence between sclerotomes and (Burgess et al, 1996;Johnson et al, 2001) Pax3 A (Farin et al, 2008) Presenilin-1 P (Shen et al, 1997;Wong et al, 1997) …”

Section: Resegmentation and Segment Number In Amphibia And Fishesmentioning

confidence: 78%

Building the backbone: the development and evolution of vertebral patterning

et al. 2015

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The segmented vertebral column comprises a repeat series of vertebrae, each consisting of two key components: the vertebral body (or centrum) and the vertebral arches. Despite being a defining feature of the vertebrates, much remains to be understood about vertebral development and evolution. Particular controversy surrounds whether vertebral component structures are homologous across vertebrates, how somite and vertebral patterning are connected, and the developmental origin of vertebral bone-mineralizing cells. Here, we assemble evidence from ichthyologists, palaeontologists and developmental biologists to consider these issues. Vertebral arch elements were present in early stem vertebrates, whereas centra arose later. We argue that centra are homologous among jawed vertebrates, and review evidence in teleosts that the notochord plays an instructive role in segmental patterning, alongside the somites, and contributes to mineralization. By clarifying the evolutionary relationship between centra and arches, and their varying modes of skeletal mineralization, we can better appreciate the detailed mechanisms that regulate and diversify vertebral patterning.

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Section: Resegmentation and Segment Number In Amphibia And Fishesmentioning

confidence: 78%

Building the backbone: the development and evolution of vertebral patterning

et al. 2015

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“…It is transiently expressed in the anterior half of newly formed somites and its expression is maintained in the anterior lateral sclerotome (Kraus et al, 2001). Tbx18 interacts with another transcription factor, Pax3, in regulating the gene expression program necessary for maintenance of anterior-posterior somite polarity (Bussen et al, 2004;Farin et al, 2008). …”

Section: Cip1mentioning

confidence: 99%

The T-box gene family: emerging roles in development, stem cells and cancer

2014

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The T-box family of transcription factors exhibits widespread involvement throughout development in all metazoans. T-box proteins are characterized by a DNA-binding motif known as the T-domain that binds DNA in a sequence-specific manner. In humans, mutations in many of the genes within the T-box family result in developmental syndromes, and there is increasing evidence to support a role for these factors in certain cancers. In addition, although early studies focused on the role of T-box factors in early embryogenesis, recent studies in mice have uncovered additional roles in unsuspected places, for example in adult stem cell populations. Here, I provide an overview of the key features of T-box transcription factors and highlight their roles and mechanisms of action during various stages of development and in stem/progenitor cell populations.

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“…The T-box also confers protein interaction with TBX18 itself (i.e., homodimerization) and with a number of other tissue-specific transcription factors including NKX2.5, PAX3, GATA4, and SIX1. 24,25 Interaction with SIX1, mutation of which causes branchio-oto-renal syndrome with CAKUT in humans, 9 is important for mediating ureteric smooth muscle formation in concert with TBX18. 26 No function has yet been assigned to the large C-terminal region of TBX18.…”

Section: Tbx18 Mutations Interfere With Transcriptional Repressionmentioning

confidence: 99%

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

Vivante

Kleppa

Schulz

et al. 2015

The American Journal of Human Genetics

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Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life. Identification of single-gene mutations that cause CAKUT permits the first insights into related disease mechanisms. However, for most cases the underlying defect remains elusive. We identified a kindred with an autosomal-dominant form of CAKUT with predominant ureteropelvic junction obstruction. By whole exome sequencing, we identified a heterozygous truncating mutation (c.1010delG) of T-Box transcription factor 18 (TBX18) in seven affected members of the large kindred. A screen of additional families with CAKUT identified three families harboring two heterozygous TBX18 mutations (c.1570C>T and c.487A>G). TBX18 is essential for developmental specification of the ureteric mesenchyme and ureteric smooth muscle cells. We found that all three TBX18 altered proteins still dimerized with the wild-type protein but had prolonged protein half life and exhibited reduced transcriptional repression activity compared to wild-type TBX18. The p.Lys163Glu substitution altered an amino acid residue critical for TBX18-DNA interaction, resulting in impaired TBX18-DNA binding. These data indicate that dominant-negative TBX18 mutations cause human CAKUT by interference with TBX18 transcriptional repression, thus implicating ureter smooth muscle cell development in the pathogenesis of human CAKUT.

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T-box Protein Tbx18 Interacts with the Paired Box Protein Pax3 in the Development of the Paraxial Mesoderm

Cited by 34 publications

References 45 publications

Building the backbone: the development and evolution of vertebral patterning

Building the backbone: the development and evolution of vertebral patterning

The T-box gene family: emerging roles in development, stem cells and cancer

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

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