T-box genes in human disorders

Human Molecular Genetics

Volumn 12, Issue REV. ISS. 1, 2003, Pages

  Packham, Elizabeth A ^a   Brook, J David ^a  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

T BOX TRANSCRIPTION FACTOR;

CHROMOSOME TRANSLOCATION 22; CLEFT PALATE; CLINICAL FEATURE; CONTROLLED STUDY; CORTICOTROPIN DEFICIENCY; DIGEORGE SYNDROME; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENETIC CODE; HOLT ORAM SYNDROME; HUMAN; MISSENSE MUTATION; MULTIGENE FAMILY; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

ADRENOCORTICOTROPIC HORMONE; ANIMALS; BONE AND BONES; DIGEORGE SYNDROME; HUMANS; MICE; MODELS, GENETIC; MUTATION; PHENOTYPE; SYNDROME; T-BOX DOMAIN PROTEINS; X-RAYS;

INSERTION SEQUENCES;

EID: 0037389229     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (82)

1. Herrmann, B.G., Labeit, S., Poustka, A., King, T.R. and Lehrach, H. (1990) Cloning of the T gene required in mesoderm formation in the mouse. Nature, 343, 617-622.
2. Pflugfelder, G.O., Roth, H., Poeck, B., Kerscher, S., Schwarz, H., Jonschker, B. and Heisenberg, M. (1992) The lethal(1)optomotor-blind gene of Drosophila melanogaster is a major organizer of optic lobe development: isolation and characterization of the gene. Proc. Natl Acad. Sci. USA, 89, 1199-1203.
3. Bollag, R.J., Siegfried, Z., Cebra-Thomas, J.A., Garvey, N., Davison, E.M. and Silver, L.M. (1994) An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus. Nat. Genet., 7, 383-389.
4. Papaioannou, V.E. and Silver, L.M. (1998) The T-box gene family. Bioessays, 20, 9-19.
5. Papaioannou, V.E. (2001) T-box genes in development: from hydra to humans. Int. Rev. Cytol., 207, 1-70.
6. Agulnik, S.I., Garvey, N., Hancock, S., Ruvinsky, I., Chapman, D.L., Agulnik, I., Bollag, R., Papaioannou, V. and Silver, L.M. (1996) Evolution of mouse T-box genes by tandem duplication and cluster dispersion. Genetics, 144, 249-254.
7. Wattler, S., Russ, A., Evans, M. and Nehls, M. (1998) A combined analysis of genomic and primary protein structure defines the phylogenetic relationship of new members of the T-box family. Genomics, 48, 24-33.
8. Chapman, D.L. and Papaioannou, V.E. (1998) Three neural tubes in mouse embryos with mutations in the T-box gene Tbx6. Nature, 391, 695-697.
9. Russ, A.P., Wattler, S., Colledge, W.H., Aparicio, S.A., Carlton, M.B., Pearce, J.J., Barton, S.C., Surani, M.A., Ryan, K., Nehls, M.C. et al. (2000) Eomesodermin is required for mouse trophoblast development and mesoderm formation. Nature, 404, 95-99.
10. Willison, K. (1990) The mouse Brachyury gene and mesoderm formation. Trends Genet., 6, 104-105.
11. Schulte-Merker, S., van Eeden, F.J., Halpern, M.E., Kimmel, C.B. and Nusslein-Volhard, C. (1994) No tail (ntl) is the zebrafish homologue of the mouse T (Brachyury) gene. Development, 120, 1009-1015.
12. Kispert, A., Herrmann, B.G., Leptin, M. and Reuter, R. (1994) Homologs of the mouse Brachyury gene are involved in the specification of posterior terminal structures in Drosophila, Tribolium, and Locusta. Genes Dev., 8, 2137-2150.
13. Jerome, L.A. and Papaioannou, V.E. (2001) DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat. Genet., 27, 286-291.
14. Lindsay, E.A., Vitelli, F., Su, H., Morishima, M., Huynh, T., Pramparo, T., Jurecic, V., Ogunrinu, G., Sutherland, H.F., Scambler, P.J. et al. (2001) Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature, 410, 97-101.
15. Merscher, S., Funke, B., Epstein, J.A., Heyer, J., Puech, A., Lu, M.M., Xavier, R.J., Demay, M.B., Russell, R.G., Factor, S. et al. (2001) TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell, 104, 619-629.
16. Scambler, P.J. (2000) The 22q11 deletion syndromes. Hum. Mol. Genet., 9, 2421-2426.
17. Wilson, D.I., Bum, J., Scambler, P. and Goodship, J. (1993) DiGeorge syndrome: part of CATCH 22. J. Med. Genet., 30, 852-856.
18. Ryan, A.K., Goodship, J.A., Wilson, D.I., Philip, N., Levy, A., Seidel, H., Schuffenhauer, S., Oechsler, H., Belohradsky, B., Prieur, M. et al. (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J. Med. Genet., 34, 798-804.
19. Chieffo, C., Garvey, N., Gong, W., Roe, B., Zhang, G., Silver, L., Emanuel, B.S. and Budarf, M.L. (1997) Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Genomics, 43, 267-277.
20. Gong, W., Gottlieb, S., Collins, J., Blescia, A., Dietz, H., Goldmuntz, E., McDonald-McGinn, D.M., Zackai, E.H., Emanuel, B.S., Driscoll, D.A. et al. (2001) Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J. Med. Genet., 38, E45.
21. Baldini, A. (2002) DiGeorge syndrome: the use of model organisms to dissect complex genetics. Hum. Mol. Genet., 11, 2363-2369.
22. Lindsay, E.A. (2001) Chromosomal microdeletions: dissecting del22q11 syndrome. Nat. Rev. Genet., 2, 858-868.
23. Lindsay, E.A., Botta, A., Jurecic, V., Carattini-Rivera, S., Cheah, Y.C., Rosenblatt, H.M., Bradley, A. and Baldini, A. (1999) Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature, 401, 379-383.
24. Lindsay, E.A. and Baldini, A. (2001) Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region. Hum. Mol. Genet., 10, 997-1002.
25. Taddei, I., Morishima, M., Huynh, T. and Lindsay, E.A. (2001) Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes. Proc. Natl Acad. Sci. USA, 98, 11428-11431.
26. Vitelli, F., Taddei, I., Morishima, M., Meyers, E.N., Lindsay, E.A. and Baldini, A. (2002) A genetic link between Tbx1 and fibroblast growth factor signaling. Development, 129, 4605-4611.
27. Kochilas, L., Merscher-Gomez, S., Lu, M.M., Potluri, V., Liao, J., Kucherlapati, R., Morrow, B. and Epstein, J.A. (2002) The role of neural crest during cardiac development in a mouse model of DiGeorge syndrome. Dev. Biol., 251, 157-166.
28. Frank, D.U, Fotheringham, L.K., Brewer, J.A., Muglia, L.J., Tristani-Firouzi, M., Capecchi, M.R. and Moon, A.M. (2002) An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. Development, 129, 4591-4603.
29. Kirby, M.L. and Waldo, K.L. (1995) Neural crest and cardiovascular patterning. Circul. Res., 77, 211-215.
30. Bockman, D.E. and Kirby, M.L. (1984) Dependence of thymus development on derivatives of the neural crest. Science, 223, 498-500.
31. Vitelli, F., Morishima, M., Taddei, I., Lindsay, E.A. and Baldini, A. (2002) Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum. Mol. Genet., 11, 915-922.
32. Abu-Issa, R., Smyth, G., Smoak, I., Yamamura, K. and Meyers, E.N. (2002) Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse. Development, 129, 4613-4625.
33. Bamshad, M., Krakowiak, P.A., Watkins, W.S., Root, S., Carey, J.C. and Jorde, L.B. (1995) A gene for ulnar-mammary syndrome maps to 12q23-q24.1. Hum. Mol. Genet., 4, 1973-1977.
34. Bamshad, M., Lin, R.C., Law, D.J., Watkins, W.C., Krakowiak, P.A., Moore, M.E., Franceschini, P., Lala, R., Holmes, L.B., Gebuhr, T.C. et al. (1997) Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat. Genet., 16, 311-315.
35. Bamshad, M., Le, T., Watkins, W.S., Dixon, M.E., Kramer, B.E., Roeder, A.D., Carey, J.C., Root, S., Schinzel, A., Van Maldergem, L. et al. (1999) The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome. Am. J. Hum. Genet., 64, 1550-1562.
36. Schinzel, A. (1987) Ulnar-mammary syndrome. J. Med. Genet., 24, 778-781.
37. Pallister, P.D., Herrmann, J. and Opitz, J.M. (1976) Studies of malformation syndromes in man XXXXII: a pleiotropic dominant mutation affecting skeletal, sexual and apocrine-mammary development. Birth Defects Orig. Artic. Ser., 12, 247-254.
38. Franceschini, P., Vardeu, M.P., Dalforno, L., Signorile, F., Franceschini, D., Lala, R. and Matarazzo, P. (1992) Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome. Am. J. Med. Genet., 44, 807-812.
39. Schinzel, A., Illig, R. and Prader, A. (1987) The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene. Clin. Genet., 32, 160-168.
40. Chapman, D.L., Garvey, N., Hancock, S., Alexiou, M., Agulnik, S.I., Gibson-Brown, J.J., Cebra-Thomas, J., Bollag, R.J., Silver, L.M. and Papaioannou, V.E. (1996) Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development. Dev. Dyn., 206, 379-390.
41. Cunha, G.R. (1994) Role of mesenchymal-epithelial interactions in normal and abnormal development of the mammary gland and prostate. Cancer, 74, 1030-1044.
42. Peters, H. and Balling, R. (1999) Teeth. Where and how to make them. Trends Genet., 15, 59-65.
43. Haraguchi, R., Suzuki, K., Murakami, R., Sakai, M., Kamikawa, M., Kengaku, M., Sekine, K., Kawano, H., Kato, S., Ueno, N. et al. (2000) Molecular analysis of external genitalia formation: the role of fibroblast growth factor (Fgf) genes during genital tubercle formation. Development, 127, 2471-2479.
44. Newbury-Ecob, R.A., Leanage, R., Raeburn, J.A. and Young, I.D. (1996) Holt-Oram syndrome: a clinical genetic study. J. Med. Genet., 33, 300-307.
45. Basson, C.T., Bachinsky, D.R., Lin, R.C., Levi, T., Elkins, J.A., Soults, J., Grayzel, D., Kroumpouzou, E., Traill, T.A., Leblanc-Straceski, J. et al. (1997) Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat. Genet., 15, 30-35.
46. Li, Q.X., Newbury-Ecob, R.A., Terrett, J.A., Wilson, D.I., Curtis, A.R., Yi, C.H., Gebuhr, T., Bullen, P.J., Robson, S.C., Strachan, T. et al. (1997) Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat. Genet., 15, 21-29.
47. Basson, C.T., Huang, T., Lin, R.C., Bachinsky, D.R., Weremowicz, S., Vaglio, A., Bruzzone, R., Quadrelli, R., Lerone, M., Romeo, G. et al. (1999) Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc. Natl Acad. Sci. USA, 96, 2919-2924.
48. Cross, S.J., Ching, Y.H., Li, Q.Y., Armstrong-Buisseret, L., Spranger, S., Lyonnet, S., Bonnet, D., Penttinen, M., Jonveaux, P., Leheup, B. et al. (2000) The mutation spectrum in Holt-Oram syndrome. J. Med. Genet, 37, 785-787.
49. Yang, J., Hu, D., Xia, J., Yang, Y., Ying, B., Hu, J. and Zhou, X. (2000) Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome. Am. J. Med. Genet., 92, 237-240.
50. Akrami, S.M., Winter, R.M., Brook, J.D. and Armour, J.A. (2001) Detection of a large TBX5 deletion in a family with Holt-Oram syndrome. J. Med. Genet., 38, E44.
51. Ghosh, T.K., Packham, E.A., Bonser, A.J., Robinson, T.E., Cross, S.J. and Brook, J.D. (2001) Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. Hum. Mol. Genet., 10, 1983-1994.
52. Hiroi, Y., Kudoh, S., Monzen, K., Ikeda, Y., Yazaki, Y., Nagai, R. and Komuro, I. (2001) Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nat. Genet., 28, 276-280.
53. Bruneau, B.G., Nemer, G., Schmitt, J.P., Charron, F., Robitaille, L., Caron, S., Conner, D.A., Gessler, M., Nemer, M., Seidman, C.E. et al. (2001) A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor tbx5 in cardiogenesis and disease. Cell, 106, 709-721.
54. Kirchhoff, S., Nelles, E., Hagendorff, A., Kruger, O., Traub, O. and Willecke, K. (1998) Reduced cardiac conduction velocity and predisposition to arrhythmias in connexin40-deficient mice. Curr. Biol., 8, 299 302.
55. Simon, A.M., Goodenough, D.A. and Paul, D.L. (1998) Mice lacking connexin40 have cardiac conduction abnormalities characteristic of atrioventricular block and bundle branch block. Curr. Biol., 8, 295-298.
56. Rodriguez-Esteban, C., Tsukui, T., Yonei, S., Magallon, J., Tamura, K. and Izpisua-Belmonte, J.C. (1999) The T-box genes Tbx4 and Tbx5 regulate limb outgrowth and identity. Nature, 398, 814-818.
57. Takeuchi, J.K., Koshiba-Takeuchi, K., Matsumoto, K., Vogel-Hopker, A., Naitoh-Matsuo, M., Ogura, K., Takahashi, N., Yasuda, K. and Ogura, T. (1999) Tbx5 and Tbx4 genes determine the wing/leg identity of limb buds. Nature, 398, 810-814.
58. Logan, M. and Tabin, C.J. (1999) Role of Pitx1 upstream of Tbx4 in specification of hindlimb identity. Science, 283, 1736-1739.
59. Szeto, D.P., Rodriguez-Esteban, C., Ryan, A.K., O'Connell, S.M., Liu, F., Kioussi, C., Gleiberman, A.S., Izpisua-Belmonte, J.C. and Rosenfeld, M.G. (1999) Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development. Genes Dev., 13, 484-494.
60. Ahn, D.G., Kourakis, M.J., Rohde, L.A., Silver, L.M. and Ho, R.K. (2002) T-box gene tbx5 is essential for formation of the pectoral limb bud. Nature, 417, 754-758.
61. Lamolet, B., Pulichino, A.M., Lamonerie, T., Gauthier, Y., Brue, T., Enjalbert, A. and Drouin, J. (2001) A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins. Cell, 104, 849-859.
62. Liu, J., Lin, C., Gleiberman, A., Ohgi, K.A., Herman, T., Huang, H.P., Tsai, M.J. and Rosenfeld, M.G. (2001) Tbx19, a tissue-selective regulator of POMC gene expression. Proc. Natl Acad. Sci. USA, 98, 8674-8679.
63. Yi, C.H., Terrett, J.A., Li, Q.Y., Ellington, K., Packham, E.A., Armstrong-Buisseret, L., McClure, P., Slingsby, T. and Brook, J.D. (1999) Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19. Genomics, 55, 10-20.
64. Pulichino, A.-M., Vallette-Kasic, S., Couture, C., Gauthier, Y., Brue, T., David, M., Malpeuch, G., Deal, C., Van Vliet, G., De Vroude, M. et al. (2003) Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. Genes Dev. (in press).
65. Schutte, B.C. and Murray, J.C. (1999) The many faces and factors of orofacial clefts. Hum. Mol. Genet., 8, 1853-1859.
66. Wilkie, A.O. and Morriss-Kay, G.M. (2001) Genetics of craniofacial development and malformation. Nat. Rev. Genet., 2, 458-468.
67. Moore, G.E., Ivens, A., Chambers, J., Farrall, M., Williamson, R., Page, D.C., Bjornsson, A., Arnason, A. and Jensson, O. (1987) Linkage of an X-chromosome cleft palate gene. Nature, 326, 91-92.
68. Gorski, S.M., Adams, K.J., Birch, P.H., Friedman, J.M. and Goodfellow, P.J. (1992) The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1. Am. J. Hum. Genet., 50, 1129-1136.
69. Stanier, P., Forbes, S.A., Arnason, A., Bjornsson, A., Sveinbjornsdottir, E., Williamson, R. and Moore, G. (1993) The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X. Genomics, 17, 549-555.
70. Gorski, S.M., Adams, K.J., Birch, P.H., Chodirker, B.N., Greenberg, C.R. and Goodfellow, P.J. (1994) Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds. Hum. Genet., 94, 141-148.
71. Laugier-Anfossi, F. and Villard, L. (2000) Molecular characterization of a new human T-box gene (TBX22) located in xq21.1 encoding a protein containing a truncated T-domain. Gene, 255, 289-296.
72. Ruvinsky, I., Silver, L.M. and Gibson-Brown, J.J. (2000) Phylogenetic analysis of T-box genes demonstrates the importance of amphioxus for understanding evolution of the vertebrate genome. Genetics, 156, 1249-1257.
73. Braybrook, C., Warry, G., Howell, G., Mandryko, V., Arnason, A., Bjornsson, A., Ross, M.T., Moore, G.E. and Stanier, P. (2001) Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region. Hum. Genet., 108, 537-545.
74. Braybrook, C., Doudney, K., Marcano, A.C., Arnason, A., Bjornsson, A., Patton, M.A., Goodfellow, P.J., Moore, G.E. and Stanier, P. (2001) The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nat. Genet., 29, 179-183.
75. Braybrook, C., Lisgo, S., Doudney, K., Henderson, D., Marcano, A.C., Strachan, T., Patton, M.A., Villard, L., Moore, G.E., Stanier, P. et al. (2002) Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. Hum. Mol. Genet., 11, 2793-2804.
76. Proetzel, G., Pawlowski, S.A., Wiles, M.V., Yin, M., Boivin, G.P., Howles, P.N., Ding, J., Ferguson, M.W. and Doetschman, T. (1995) Transforming growth factor-beta 3 is required for secondary palate fusion. Nat. Genet., 11, 409-441.
77. Sun, D., Vanderburg, C.R., Odierna, G.S. and Hay, E.D. (1998) TGFbeta3 promotes transformation of chicken palate medial edge epithelium to mesenchyme in vitro. Development, 125, 95-105.
78. Campbell, C., Goodrich, K., Casey, G. and Beatty, B. (1995) Cloning and mapping of a human gene (TBX2) sharing a highly conserved protein motif with the Drosophila omb gene. Genomics, 28, 255-260.
79. Barlund. M., Monni, O., Kononen, J., Cornelison, R., Torhorst, J., Sauter, G., Kallioniemi, O.-P. and Kallioniemi, A. (2000) Multiple genes at 17q23 undergo amplification and overexpression in breast cancer. Cancer Res., 60, 5340-5344.
80. Jacobs, J.J., Keblusek, P., Robanus-Maandag, E., Kristel, P., Lingbeek, M., Nederlof, P.M., van Welsem, T., van de Vijver, M.J., Koh, E.Y., Daley, G.Q. et al. (2000) Senescence bypass screen identifies TBX2, which represses Cdkn2a (p19(ARF)) and is amplified in a subset of human breast cancers. Nat. Genet., 26, 291-299.
81. Brummelkamp, T.R., Kortlever, R.M., Lingbeek, M., Trettel, F., MacDonald, M.E., van Lohuizen, M. and Bernards, R. (2002) TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. J. Biol. Chem., 277, 6567-6572.
82. Agulnik, S.I., Papaioannou, V.E. and Silver, L.M. (1998) Cloning, mapping, and expression analysis of TBX15, a new member of the T-box gene family. Genomics, 51, 68-75.