Tbx1

Summary

Gene Symbol: Tbx1
Description: T-box 1
Alias: T-box transcription factor TBX1, T-box protein 1, testis-specific T-box protein
Species: mouse
Products:     Tbx1

Top Publications

  1. Chen L, Fulcoli F, Tang S, Baldini A. Tbx1 regulates proliferation and differentiation of multipotent heart progenitors. Circ Res. 2009;105:842-51 pubmed publisher
    b>TBX1 encodes a T-box transcription factor implicated in DiGeorge syndrome, which affects the development of many organs, including the heart...
  2. Vitelli F, Viola A, Morishima M, Pramparo T, Baldini A, Lindsay E. TBX1 is required for inner ear morphogenesis. Hum Mol Genet. 2003;12:2041-8 pubmed
    b>TBX1 is thought to be a critical gene in the pathogenesis of del22q11/DiGeorge syndrome (DGS). Morphological abnormalities of the external ear and hearing impairment (conductive or sensorineural) affect the majority of patients...
  3. Vitelli F, Morishima M, Taddei I, Lindsay E, Baldini A. Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum Mol Genet. 2002;11:915-22 pubmed
    b>TBX1 is the major candidate gene for DiGeorge syndrome (DGS)...
  4. Funke B, Epstein J, Kochilas L, Lu M, Pandita R, Liao J, et al. Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects. Hum Mol Genet. 2001;10:2549-56 pubmed
    ..artificial chromosome (BAC) transgenic mice overexpressing four transgenes, PNUTL1, (CDCrel-1), GP1B beta, TBX1 and WDR14, had reduced viability, cardiovascular malformations and thymus gland hypoplasia...
  5. Zhang Z, Baldini A. Manipulation of endogenous regulatory elements and transgenic analyses of the Tbx1 gene. Mamm Genome. 2010;21:556-64 pubmed publisher
    ..b>TBX1 heterozygous mutation causes DiGeorge Syndrome, a typical disorder of pharyngeal development...
  6. Chapman D, Garvey N, Hancock S, Alexiou M, Agulnik S, Gibson Brown J, et al. Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development. Dev Dyn. 1996;206:379-90 pubmed
    ..homology has been named the T-box, and the new mouse genes that contain the T-box domain have been named T-box 1-6 (Tbx1 through Tbx6)...
  7. Stoller J, Huang L, Tan C, Huang F, Zhou D, Yang J, et al. Ash2l interacts with Tbx1 and is required during early embryogenesis. Exp Biol Med (Maywood). 2010;235:569-76 pubmed publisher
    b>TBX1 encodes a DNA binding transcription factor that is commonly deleted in human DiGeorge syndrome and plays an important role in heart development...
  8. Xu H, Viola A, Zhang Z, Gerken C, Lindsay Illingworth E, Baldini A. Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells. Dev Biol. 2007;302:670-82 pubmed
    The T-box transcription factor Tbx1 is required for inner ear morphogenesis. Tbx1 null mutants have a small otocyst that fails to grow and remodel and does not give rise to the vestibular and cochlear apparata...
  9. Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, et al. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A. 2006;103:7729-34 pubmed
    ..We show that PPI deficits in Df1/+ mice are caused by haploinsufficiency of two genes, Tbx1 and Gnb1l. Mutation of either gene is sufficient to cause reduced PPI...
  10. Rinon A, Lazar S, Marshall H, Büchmann Møller S, Neufeld A, Elhanany Tamir H, et al. Cranial neural crest cells regulate head muscle patterning and differentiation during vertebrate embryogenesis. Development. 2007;134:3065-75 pubmed
    ..We suggest that CNC cells control craniofacial development by regulating positional interactions with mesoderm-derived muscle progenitors that together shape the cranial musculoskeletal architecture in vertebrate embryos. ..

Detail Information

Publications74

  1. Chen L, Fulcoli F, Tang S, Baldini A. Tbx1 regulates proliferation and differentiation of multipotent heart progenitors. Circ Res. 2009;105:842-51 pubmed publisher
    b>TBX1 encodes a T-box transcription factor implicated in DiGeorge syndrome, which affects the development of many organs, including the heart...
  2. Vitelli F, Viola A, Morishima M, Pramparo T, Baldini A, Lindsay E. TBX1 is required for inner ear morphogenesis. Hum Mol Genet. 2003;12:2041-8 pubmed
    b>TBX1 is thought to be a critical gene in the pathogenesis of del22q11/DiGeorge syndrome (DGS). Morphological abnormalities of the external ear and hearing impairment (conductive or sensorineural) affect the majority of patients...
  3. Vitelli F, Morishima M, Taddei I, Lindsay E, Baldini A. Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum Mol Genet. 2002;11:915-22 pubmed
    b>TBX1 is the major candidate gene for DiGeorge syndrome (DGS)...
  4. Funke B, Epstein J, Kochilas L, Lu M, Pandita R, Liao J, et al. Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects. Hum Mol Genet. 2001;10:2549-56 pubmed
    ..artificial chromosome (BAC) transgenic mice overexpressing four transgenes, PNUTL1, (CDCrel-1), GP1B beta, TBX1 and WDR14, had reduced viability, cardiovascular malformations and thymus gland hypoplasia...
  5. Zhang Z, Baldini A. Manipulation of endogenous regulatory elements and transgenic analyses of the Tbx1 gene. Mamm Genome. 2010;21:556-64 pubmed publisher
    ..b>TBX1 heterozygous mutation causes DiGeorge Syndrome, a typical disorder of pharyngeal development...
  6. Chapman D, Garvey N, Hancock S, Alexiou M, Agulnik S, Gibson Brown J, et al. Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development. Dev Dyn. 1996;206:379-90 pubmed
    ..homology has been named the T-box, and the new mouse genes that contain the T-box domain have been named T-box 1-6 (Tbx1 through Tbx6)...
  7. Stoller J, Huang L, Tan C, Huang F, Zhou D, Yang J, et al. Ash2l interacts with Tbx1 and is required during early embryogenesis. Exp Biol Med (Maywood). 2010;235:569-76 pubmed publisher
    b>TBX1 encodes a DNA binding transcription factor that is commonly deleted in human DiGeorge syndrome and plays an important role in heart development...
  8. Xu H, Viola A, Zhang Z, Gerken C, Lindsay Illingworth E, Baldini A. Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells. Dev Biol. 2007;302:670-82 pubmed
    The T-box transcription factor Tbx1 is required for inner ear morphogenesis. Tbx1 null mutants have a small otocyst that fails to grow and remodel and does not give rise to the vestibular and cochlear apparata...
  9. Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, et al. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A. 2006;103:7729-34 pubmed
    ..We show that PPI deficits in Df1/+ mice are caused by haploinsufficiency of two genes, Tbx1 and Gnb1l. Mutation of either gene is sufficient to cause reduced PPI...
  10. Rinon A, Lazar S, Marshall H, Büchmann Møller S, Neufeld A, Elhanany Tamir H, et al. Cranial neural crest cells regulate head muscle patterning and differentiation during vertebrate embryogenesis. Development. 2007;134:3065-75 pubmed
    ..We suggest that CNC cells control craniofacial development by regulating positional interactions with mesoderm-derived muscle progenitors that together shape the cranial musculoskeletal architecture in vertebrate embryos. ..
  11. Vitelli F, Taddei I, Morishima M, Meyers E, Lindsay E, Baldini A. A genetic link between Tbx1 and fibroblast growth factor signaling. Development. 2002;129:4605-11 pubmed
    b>Tbx1 haploinsufficiency causes aortic arch abnormalities in mice because of early growth and remodeling defects of the fourth pharyngeal arch arteries...
  12. Liao J, Aggarwal V, Nowotschin S, Bondarev A, Lipner S, Morrow B. Identification of downstream genetic pathways of Tbx1 in the second heart field. Dev Biol. 2008;316:524-37 pubmed publisher
    b>Tbx1, a T-box transcription factor, and an important gene for velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) in humans, causes outflow tract (OFT) heart defects when inactivated in the mouse...
  13. Guo C, Sun Y, Zhou B, Adam R, Li X, Pu W, et al. A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. J Clin Invest. 2011;121:1585-95 pubmed publisher
    ..that Six1 and Eya1 genetically interacted with Fgf8 and the critical del22q11 gene T-box transcription factor 1 (Tbx1) in mice...
  14. Chen L, Fulcoli F, Ferrentino R, Martucciello S, Illingworth E, Baldini A. Transcriptional control in cardiac progenitors: Tbx1 interacts with the BAF chromatin remodeling complex and regulates Wnt5a. PLoS Genet. 2012;8:e1002571 pubmed publisher
    ..Because of cardiac phenotype similarities between Wnt5a and Tbx1 mutant mice, we tested potential interactions between the two genes...
  15. Yamagishi H, Maeda J, Hu T, McAnally J, Conway S, Kume T, et al. Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev. 2003;17:269-81 pubmed
    Haploinsufficiency of Tbx1 is likely a major determinant of cardiac and craniofacial birth defects associated with DiGeorge syndrome...
  16. Huh S, Ornitz D. Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1. Development. 2010;137:1137-47 pubmed publisher
    ..b>TBX1 is the most likely candidate disease-causing gene and is located within a 22q11...
  17. Sutherland H, Kim U, Scambler P. Cloning and comparative mapping of the DiGeorge syndrome critical region in the mouse. Genomics. 1998;52:37-43 pubmed
    ..The map confirms and extends previous analyses and the contig resources toward the generation of targeted deletions in the mouse. ..
  18. Grifone R, Jarry T, Dandonneau M, Grenier J, Duprez D, Kelly R. Properties of branchiomeric and somite-derived muscle development in Tbx1 mutant embryos. Dev Dyn. 2008;237:3071-8 pubmed publisher
    Vertebrate craniofacial and trunk myogenesis are regulated by distinct genetic programs. Tbx1, homologue of the del22q11.2 syndrome candidate gene TBX1, controls branchiomeric craniofacial muscle development...
  19. Dong F, Sun X, Liu W, Ai D, Klysik E, Lu M, et al. Pitx2 promotes development of splanchnic mesoderm-derived branchiomeric muscle. Development. 2006;133:4891-9 pubmed
    ..Conditional inactivation in mice and manipulation of Pitx2 expression in chick mandible cultures revealed an autonomous function in expansion and survival of branchial arch mesoderm. ..
  20. Zhang Z, Baldini A. In vivo response to high-resolution variation of Tbx1 mRNA dosage. Hum Mol Genet. 2008;17:150-7 pubmed
    ..In this study, we use Tbx1 mutants, which model one of the most common haploinsufficiency disorders, the 22q11...
  21. Kelly R, Jerome Majewska L, Papaioannou V. The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis. Hum Mol Genet. 2004;13:2829-40 pubmed
    Formation and remodeling of the pharyngeal arches play central roles in craniofacial development. TBX1, encoding a T-box-containing transcription factor, is the major candidate gene for del22q11...
  22. Huynh T, Chen L, Terrell P, Baldini A. A fate map of Tbx1 expressing cells reveals heterogeneity in the second cardiac field. Genesis. 2007;45:470-5 pubmed
    b>Tbx1 is required for the expansion of second heart field (SHF) cardiac progenitors destined to the outflow tract of the heart. Loss of Tbx1 causes heart defects in humans and mice...
  23. Xu H, Cerrato F, Baldini A. Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion. Development. 2005;132:4387-95 pubmed
    ..first systematic time-course deletion, in parallel with timed cell fate mapping, of a developmentally crucial gene, Tbx1, during mouse embryogenesis...
  24. Chen L, Mupo A, Huynh T, Cioffi S, Woods M, Jin C, et al. Tbx1 regulates Vegfr3 and is required for lymphatic vessel development. J Cell Biol. 2010;189:417-24 pubmed publisher
    Lymphatic dysfunction causes several human diseases, and tumor lymphangiogenesis is implicated in cancer spreading. TBX1 is the major gene for DiGeorge syndrome, which is associated with multiple congenital anomalies...
  25. Hu T, Yamagishi H, Maeda J, McAnally J, Yamagishi C, Srivastava D. Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors. Development. 2004;131:5491-502 pubmed
    ..Human and mouse studies indicate that haploinsufficiency of the transcription factor TBX1 disrupts pharyngeal arch development, resulting in the cardiac and craniofacial features associated with ..
  26. Braunstein E, Crenshaw E, Morrow B, Adams J. Cooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formation. J Assoc Res Otolaryngol. 2008;9:33-43 pubmed publisher
    The T-box transcription factor TBX1 has been identified as the major gene responsible for the etiology of velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS)...
  27. Takeuchi J, Mileikovskaia M, Koshiba Takeuchi K, Heidt A, Mori A, Arruda E, et al. Tbx20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron development. Development. 2005;132:2463-74 pubmed
    ..We conclude that Tbx20 is positioned at a critical node in transcription factor networks required for heart and motoneuron development where it dose-dependently regulates gene expression. ..
  28. Calmont A, Ivins S, van Bueren K, Papangeli I, Kyriakopoulou V, Andrews W, et al. Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm. Development. 2009;136:3173-83 pubmed publisher
    ..The transcription factor Tbx1 plays a vital role in PAA development and is a major contributor to cardiovascular disease associated with DiGeorge ..
  29. Randall V, McCue K, Roberts C, Kyriakopoulou V, Beddow S, Barrett A, et al. Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J Clin Invest. 2009;119:3301-10 pubmed publisher
    ..study, we screened for chromosome rearrangements in patients suspected of VCFS, but who lacked a 22q11 deletion or TBX1 mutation. One individual displayed hemizygous CHD7, which encodes a chromodomain protein...
  30. Stennard F, Harvey R. T-box transcription factors and their roles in regulatory hierarchies in the developing heart. Development. 2005;132:4897-910 pubmed
    ..At least seven family members are expressed in the developing mammalian heart, and the human T-box genes TBX1 and TBX5 are mutated in cardiac congenital anomaly syndromes...
  31. van Bueren K, Papangeli I, Rochais F, Pearce K, Roberts C, Calmont A, et al. Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome. Dev Biol. 2010;340:369-80 pubmed publisher
    ..aberrant development of the pharyngeal apparatus and the heart with haploinsufficiency of the transcription factor TBX1 being considered the major underlying cause of the disease. Tbx1 mutations in mouse phenocopy the disorder...
  32. Funato N, Nakamura M, Richardson J, Srivastava D, Yanagisawa H. Tbx1 regulates oral epithelial adhesion and palatal development. Hum Mol Genet. 2012;21:2524-37 pubmed publisher
    ..Here, we show that genetic disruption of Tbx1, a major candidate gene for the human congenital disorder 22q11...
  33. Park E, Ogden L, Talbot A, Evans S, Cai C, Black B, et al. Required, tissue-specific roles for Fgf8 in outflow tract formation and remodeling. Development. 2006;133:2419-33 pubmed
    ..These findings provide a novel insight into how the formation and remodeling of primary and anterior heart field-derived structures rely on Fgf8 signals from discrete temporospatial domains. ..
  34. Caton J, Luder H, Zoupa M, Bradman M, Bluteau G, Tucker A, et al. Enamel-free teeth: Tbx1 deletion affects amelogenesis in rodent incisors. Dev Biol. 2009;328:493-505 pubmed publisher
    b>TBX1 is a principal candidate gene for DiGeorge syndrome, a developmental anomaly that affects the heart, thymus, parathyroid, face, and teeth...
  35. Frank D, Fotheringham L, Brewer J, Muglia L, Tristani Firouzi M, Capecchi M, et al. An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. Development. 2002;129:4591-603 pubmed
    ..In either case, Fgf8 may function as a modifier of the 22q11 deletion and contribute to the phenotypic variability of this syndrome...
  36. Braunstein E, Monks D, Aggarwal V, Arnold J, Morrow B. Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis. BMC Dev Biol. 2009;9:31 pubmed publisher
    ..This process is regulated via inductive interactions from surrounding tissues. Tbx1, the gene responsible for velo-cardio-facial syndrome/DiGeorge syndrome in humans, is required for ear development ..
  37. Shih H, Gross M, Kioussi C. Cranial muscle defects of Pitx2 mutants result from specification defects in the first branchial arch. Proc Natl Acad Sci U S A. 2007;104:5907-12 pubmed
    ..Pitx2 was also required for expression of premyoblast specification markers Tbx1, Tcf21, and Msc in the first, but not second, branchial arch...
  38. Merscher S, Funke B, Epstein J, Heyer J, Puech A, Lu M, et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell. 2001;104:619-29 pubmed
    ..The conotruncal defects can be partially rescued by a human BAC containing the TBX1 gene. Mice heterozygous for a null mutation in Tbx1 develop conotruncal defects...
  39. Jerome L, Papaioannou V. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet. 2001;27:286-91 pubmed
    ..We have investigated the potential role of one candidate gene, Tbx1, which encodes a transcription factor of the T-box family, by producing a null mutation in mice...
  40. Bollag R, Siegfried Z, Cebra Thomas J, Garvey N, Davison E, Silver L. An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus. Nat Genet. 1994;7:383-9 pubmed
    ..Phylogenetic analysis suggests that at least three T-box genes were present in the common ancestor to vertebrates and invertebrates. Thus, members of the T-box family could have played a role in the evolution of all metazoan organisms. ..
  41. Monks D, Morrow B. Identification of putative retinoic acid target genes downstream of mesenchymal Tbx1 during inner ear development. Dev Dyn. 2012;241:563-73 pubmed publisher
    The T-box transcription factor Tbx1 is expressed in the otic vesicle and surrounding mesoderm of the periotic mesenchyme (POM) during inner ear development...
  42. Dastjerdi A, Robson L, Walker R, Hadley J, Zhang Z, Rodriguez Niedenführ M, et al. Tbx1 regulation of myogenic differentiation in the limb and cranial mesoderm. Dev Dyn. 2007;236:353-63 pubmed
    The T-box transcription factor Tbx1 has been implicated in DiGeorge syndrome, the most frequent syndrome due to a chromosomal deletion...
  43. Arnold J, Werling U, Braunstein E, Liao J, Nowotschin S, Edelmann W, et al. Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations. Development. 2006;133:977-87 pubmed
    ..Mouse genetic studies have identified Tbx1, a member of the T-box family of transcription factors, as being responsible for the physical malformations of the ..
  44. Abu Issa R, Smyth G, Smoak I, Yamamura K, Meyers E. Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse. Development. 2002;129:4613-25 pubmed
    ..This study defines the cardiovascular defects present in Fgf8 mutants and supports a role for Fgf8 in development of all the pharyngeal arches and in NCC survival. ..
  45. Liao J, Kochilas L, Nowotschin S, Arnold J, Aggarwal V, Epstein J, et al. Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum Mol Genet. 2004;13:1577-85 pubmed
    ..b>Tbx1, a gene encoding a T-box transcription factor, which is hemizygously deleted on chromosome 22q11...
  46. Théveniau Ruissy M, Dandonneau M, Mesbah K, Ghez O, Mattei M, Miquerol L, et al. The del22q11.2 candidate gene Tbx1 controls regional outflow tract identity and coronary artery patterning. Circ Res. 2008;103:142-8 pubmed publisher
    b>TBX1, encoding a T-box containing transcription factor, is the major candidate gene for del22q11.2 or DiGeorge syndrome, characterized by craniofacial and cardiovascular defects including tetralogy of Fallot and common arterial trunk...
  47. Stalmans I, Lambrechts D, De Smet F, Jansen S, Wang J, Maity S, et al. VEGF: a modifier of the del22q11 (DiGeorge) syndrome?. Nat Med. 2003;9:173-82 pubmed
    ..The del22q11 syndrome is likely caused by haploinsufficiency of TBX1, but its variable expressivity indicates the involvement of additional modifiers...
  48. Xu H, Chen L, Baldini A. In vivo genetic ablation of the periotic mesoderm affects cell proliferation survival and differentiation in the cochlea. Dev Biol. 2007;310:329-40 pubmed
    b>Tbx1 is required for ear development in humans and mice...
  49. Morishima M, Yanagisawa H, Yanagisawa M, Baldini A. Ece1 and Tbx1 define distinct pathways to aortic arch morphogenesis. Dev Dyn. 2003;228:95-104 pubmed
    ..Mutations in the Endothelin-1 genetic pathway or Tbx1, a candidate gene for DiGeorge syndrome, cause similar aortic arch defects...
  50. Goudy S, Law A, Sanchez G, Baldwin H, Brown C. Tbx1 is necessary for palatal elongation and elevation. Mech Dev. 2010;127:292-300 pubmed publisher
    The transcription factor TBX1 is a key mediator of developmental abnormalities associated with DiGeorge/Velocardiofacial Syndrome...
  51. Raft S, Nowotschin S, Liao J, Morrow B. Suppression of neural fate and control of inner ear morphogenesis by Tbx1. Development. 2004;131:1801-12 pubmed
    ..We show that in the mouse otocyst epithelium, Tbx1 suppresses neurogenin 1-mediated neural fate determination and is required for induction or proper patterning of ..
  52. Choi M, Klingensmith J. Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. PLoS Genet. 2009;5:e1000395 pubmed publisher
    Point mutations in TBX1 can recapitulate many of the structural defects of 22q11 deletion syndromes (22q11DS), usually associated with a chromosomal deletion at 22q1.2...
  53. Xu H, Morishima M, Wylie J, Schwartz R, Bruneau B, Lindsay E, et al. Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract. Development. 2004;131:3217-27 pubmed
    ..Genetic manipulation in the mouse and mutational analysis in patients have shown that Tbx1, a T-box transcription factor, has a key role in the pathogenesis of this syndrome...
  54. Moraes F, Novoa A, Jerome Majewska L, Papaioannou V, Mallo M. Tbx1 is required for proper neural crest migration and to stabilize spatial patterns during middle and inner ear development. Mech Dev. 2005;122:199-212 pubmed
    b>Tbx1 belongs to the family of T-box containing transcription factors. In humans, TBX1 is implicated in the etiology of the DiGeorge syndrome...
  55. Zhang Z, Cerrato F, Xu H, Vitelli F, Morishima M, Vincentz J, et al. Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development. Development. 2005;132:5307-15 pubmed
    ..cardiovascular defects occur commonly in DiGeorge syndrome and velocardiofacial syndrome (22q11DS), and in Tbx1(+/-) mice that model the 22q11DS cardiovascular phenotype...
  56. Nowotschin S, Liao J, Gage P, Epstein J, Campione M, Morrow B. Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field. Development. 2006;133:1565-73 pubmed
    ..5-3.0 Mb hemizygous 22q11.2 deletions. The T-box transcription factor TBX1, lies within the nested 1.5 Mb interval and is a strong candidate for its etiology...
  57. Roberts C, Ivins S, Cook A, Baldini A, Scambler P. Cyp26 genes a1, b1 and c1 are down-regulated in Tbx1 null mice and inhibition of Cyp26 enzyme function produces a phenocopy of DiGeorge Syndrome in the chick. Hum Mol Genet. 2006;15:3394-410 pubmed
    ..a gene required for retinoic acid (RA) inactivation during embryogenesis, was previously identified as a potential Tbx1 target from a microarray screen comparing wild-type and null Tbx1 mouse embryo pharyngeal arches (pa) at E9.5...
  58. Riccomagno M, Martinu L, Mulheisen M, Wu D, Epstein D. Specification of the mammalian cochlea is dependent on Sonic hedgehog. Genes Dev. 2002;16:2365-78 pubmed
    ..alterations in the expression of a number of genes involved in cell fate specification including Pax2, Otx1, Otx2, Tbx1, and Ngn1...
  59. Voss A, Vanyai H, Collin C, Dixon M, McLennan T, Sheikh B, et al. MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome. Dev Cell. 2012;23:652-63 pubmed publisher
    DiGeorge syndrome, caused by a 22q11 microdeletion or mutation of the TBX1 gene, varies in severity greatly, even among monozygotic twins...
  60. Chieffo C, Garvey N, Gong W, Roe B, Zhang G, Silver L, et al. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Genomics. 1997;43:267-77 pubmed
    ..2. This report describes the identification, cloning, and characterization of the human TBX1 gene, which maps to the center of the DiGeorge chromosomal region...
  61. Garg V, Yamagishi C, Hu T, Kathiriya I, Yamagishi H, Srivastava D. Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development. Dev Biol. 2001;235:62-73 pubmed
    ..2 deletion syndrome (del22q11), but the genes responsible remain unknown. Tbx1 is a T-box transcription factor that lies in the 22q11.2 locus...
  62. Bachiller D, Klingensmith J, Shneyder N, Tran U, Anderson R, Rossant J, et al. The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome. Development. 2003;130:3567-78 pubmed
    ..Chordin secreted by the mesendoderm is required for the correct expression of Tbx1 and other transcription factors involved in the development of the pharyngeal region...
  63. Lindsay E, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, et al. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. 2001;410:97-101 pubmed
    ..engineering and P1 artificial chromosome transgenesis to localize the haploinsufficient gene in the region, Tbx1. We show that Tbx1, a member of the T-box transcription factor family, is required for normal development of the ..
  64. Stoller J, Epstein J. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Hum Mol Genet. 2005;14:885-92 pubmed
    ..Animal studies using mouse models have implicated Tbx1 as a critical gene within the commonly deleted region, and several mutations in TBX1 have been identified recently ..
  65. Schleiffarth J, Person A, Martinsen B, Sukovich D, Neumann A, Baker C, et al. Wnt5a is required for cardiac outflow tract septation in mice. Pediatr Res. 2007;61:386-91 pubmed
  66. Arnold J, Braunstein E, Ohyama T, Groves A, Adams J, Brown M, et al. Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients. Hum Mol Genet. 2006;15:1629-39 pubmed
    ..b>Tbx1, a gene hemizygously deleted in 22q11DS patients and required for ear development, is expressed in multiple tissues ..
  67. Fulcoli F, Huynh T, Scambler P, Baldini A. Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner. PLoS ONE. 2009;4:e6049 pubmed publisher
    b>Tbx1 is a T-box transcription factor implicated in DiGeorge syndrome. The molecular function of Tbx1 is unclear although it can transactivate reporters with T-box binding elements...
  68. Ivins S, Lammerts van Beuren K, Roberts C, James C, Lindsay E, Baldini A, et al. Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1. Dev Biol. 2005;285:554-69 pubmed
    22q11-deletion (DiGeorge/velocardiofacial) syndrome (22q11DS) is modeled by mutation of murine transcription factor Tbx1. As part of efforts to identify transcriptional targets of Tbx1, we analyzed the transcriptome of the pharyngeal ..
  69. Guris D, Duester G, Papaioannou V, Imamoto A. Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. Dev Cell. 2006;10:81-92 pubmed
    ..Here, we report that compound heterozygosity of mouse homologs of two 22q11 genes, CRKL and TBX1, results in a striking increase in the penetrance and expressivity of a DGS-like phenotype compared to ..
  70. Agulnik S, Garvey N, Hancock S, Ruvinsky I, Chapman D, Agulnik I, et al. Evolution of mouse T-box genes by tandem duplication and cluster dispersion. Genetics. 1996;144:249-54 pubmed
    ..Earlier studies allowed the identification of five mouse T-box genes, T, Tbx1-3, and Tbr1, that all map to different chromosomal locations and are expressed in unique temporal and spatial ..
  71. Wang J, Greene S, Bonilla Claudio M, Tao Y, Zhang J, Bai Y, et al. Bmp signaling regulates myocardial differentiation from cardiac progenitors through a MicroRNA-mediated mechanism. Dev Cell. 2010;19:903-12 pubmed publisher
    ..We uncovered functional miRNA-17-92 seed sequences within the 3' UTR of cardiac progenitor genes such as Isl1 and Tbx1. In both Bmp and miRNA-17-92 mutant embryos, Isl1 and Tbx1 expression failed to be correctly downregulated...
  72. Zou D, Silvius D, Davenport J, Grifone R, Maire P, Xu P. Patterning of the third pharyngeal pouch into thymus/parathyroid by Six and Eya1. Dev Biol. 2006;293:499-512 pubmed
    ..Moreover, we show that the expression of Tbx1, Fgf8 and Wnt5b in the pouch endoderm was normal in Six1-/- embryos and slightly reduced in Six1-/-;Six4-/- double ..
  73. Aggarwal V, Liao J, Bondarev A, Schimmang T, Lewandoski M, Locker J, et al. Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. Hum Mol Genet. 2006;15:3219-28 pubmed
    ..Mouse genetic studies have identified Tbx1 as a key gene in the etiology of the syndrome, in part, via interaction with the fibroblast growth factor (Fgf) ..
  74. Zhang Z, Huynh T, Baldini A. Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development. Development. 2006;133:3587-95 pubmed
    ..Here, we report that the mesoderm-specific deletion of Tbx1, a T-box transcription factor, caused severe pharyngeal patterning and cardiovascular defects, while mesoderm-..