β-Catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1

Development

Volumn 137, Issue 7, 2010, Pages 1137-1147

  Huh, Sung Ho ^a   Ornitz, David M ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

catenin; Digeorge syndrome; Fgf8; Pharyngeal arch; Tbx1

Indexed keywords

BETA CATENIN; FIBROBLAST GROWTH FACTOR 8; PROTEIN; TBX1 PROTEIN; UNCLASSIFIED DRUG; WNT PROTEIN; FGF8 PROTEIN, MOUSE; REPRESSOR PROTEIN; T BOX TRANSCRIPTION FACTOR; TBX1 PROTEIN, HUMAN; TBX1 PROTEIN, MOUSE; TRANSCRIPTION FACTOR TWIST; TWIST2 PROTEIN, MOUSE;

ANIMAL EXPERIMENT; AORTA ARCH; ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DIGEORGE SYNDROME; DISEASE SEVERITY; EMBRYO; EMBRYO DEVELOPMENT; FEMALE; GENE DOSAGE; HETEROZYGOSITY; HYPOPLASIA; INCIDENCE; MESENCHYME; MICROGNATHIA; MOUSE; NONHUMAN; PARATHYROID GLAND; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PULMONARY ARTERY; SIGNAL TRANSDUCTION; THYMUS HYPOPLASIA; ANIMAL; BRANCHIAL ARCH; CONGENITAL MALFORMATION; GENE EXPRESSION REGULATION; GENETICS; HISTOLOGY; HUMAN; IN SITU HYBRIDIZATION; MESODERM; METABOLISM; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; PREGNANCY; PRENATAL DEVELOPMENT; TRANSGENIC MOUSE;

MUS;

ABNORMALITIES, MULTIPLE; ANIMALS; BETA CATENIN; BRANCHIAL REGION; DIGEORGE SYNDROME; FEMALE; FIBROBLAST GROWTH FACTOR 8; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; IN SITU HYBRIDIZATION; MESODERM; MICE; MICE, TRANSGENIC; PHENOTYPE; PREGNANCY; REPRESSOR PROTEINS; SIGNAL TRANSDUCTION; T-BOX DOMAIN PROTEINS; TWIST TRANSCRIPTION FACTOR; WNT PROTEINS;

EID: 77950470497     PISSN: 09501991     EISSN: 14779129     Source Type: Journal    
DOI: 10.1242/dev.045534     Document Type: Article

References (50)

1. Abe, M., Maeda, T. and Wakisaka, S. (2008). Retinoic acid affects craniofacial patterning by changing Fgf8 expression in the pharyngeal ectoderm. Dev. Growth Differ. 50, 717-729.
2. Ai, D., Fu, X., Wang, J., Lu, M. F., Chen, L., Baldini, A., Klein, W. H. and Martin, J. F. (2007). Canonical Wnt signaling functions in second heart field to promote right ventricular growth. Proc. Natl. Acad. Sci. USA 104, 9319-9324. (Pubitemid 47185777)
3. Baldini, A. (2002). DiGeorge syndrome: the use of model organisms to dissect complex genetics. Hum. Mol. Genet. 11, 2363-2369.
4. Baldini, A. (2003). DiGeorge's syndrome: a gene at last. Lancet 362, 1342-1343.
5. Brault, V., Moore, R., Kutsch, S., Ishibashi, M., Rowitch, D. H., McMahon, A. P., Sommer, L., Boussadia, O. and Kemler, R. (2001). Inactivation of the beta-catenin gene by Wnt1-Cre-mediated deletion results in dramatic brain malformation and failure of craniofacial development. Development 128, 1253-1264. (Pubitemid 32409648)
6. 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. (Pubitemid 26260172)
7. Clevers, H. (2006). Wnt/beta-catenin signaling in development and disease. Cell 127, 469-480.
8. Cohen, E. D., Wang, Z., Lepore, J. J., Lu, M. M., Taketo, M. M., Epstein, D. J. and Morrisey, E. E. (2007). Wnt/beta-catenin signaling promotes expansion of Isl-1-positive cardiac progenitor cells through regulation of FGF signaling. J. Clin. Invest. 117, 1794-1804. (Pubitemid 47036313)
9. Danielian, P. S., Muccino, D., Rowitch, D. H., Michael, S. K. and McMahon, A. P. (1998). Modification of gene activity in mouse embryos in utero by a tamoxifen-inducible form of Cre recombinase. Curr. Biol. 8, 1323-1326. (Pubitemid 29006707)
10. DasGupta, R. and Fuchs, E. (1999). Multiple roles for activated LEF/TCF transcription complexes during hair follicle development and differentiation. Development 126, 4557-4568.
11. Day, T. F., Guo, X., Garrett-Beal, L. and Yang, Y. (2005). Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis. Dev. Cell 8, 739-750. (Pubitemid 40585296)
12. De Langhe, S. P., Carraro, G., Tefft, D., Li, C., Xu, X., Chai, Y., Minoo, P., Hajihosseini, M. K., Drouin, J., Kaartinen, V. et al. (2008). Formation and differentiation of multiple mesenchymal lineages during lung development is regulated by beta-catenin signaling. PLoS ONE 3, e1516. (Pubitemid 351827377)
13. Garg, V., Yamagishi, C., Hu, T., Kathiriya, I. S., Yamagishi, H. and Srivastava, D. (2001). Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development. Dev. Biol. 235, 62-73. (Pubitemid 32612560)
14. Goddeeris, M. M., Schwartz, R., Klingensmith, J. and Meyers, E. N. (2007). Independent requirements for Hedgehog signaling by both the anterior heart field and neural crest cells for outflow tract development. Development 134, 1593-1604. (Pubitemid 46746311)
15. Graham, A. (2003). Development of the pharyngeal arches. Am. J. Med. Genet. 119A, 251-256.
16. Grieshammer, U., Cebrian, C., Ilagan, R., Meyers, E., Herzlinger, D. and Martin, G. R. (2005). FGF8 is required for cell survival at distinct stages of nephrogenesis and for regulation of gene expression in nascent nephrons. Development 132, 3847-3857. (Pubitemid 41410250)
17. Guris, D. L., Fantes, J., Tara, D., Druker, B. J. and Imamoto, A. (2001). Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Nat. Genet. 27, 293-298. (Pubitemid 32201850)
18. Guris, D. L., Duester, G., Papaioannou, V. E. and Imamoto, A. (2006). Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. Dev. Cell 10, 81-92. (Pubitemid 43025679)
19. Harada, N., Tamai, Y., Ishikawa, T., Sauer, B., Takaku, K., Oshima, M. and Taketo, M. M. (1999). Intestinal polyposis in mice with a dominant stable mutation of the beta-catenin gene. EMBO J. 18, 5931-5942. (Pubitemid 29515670)
20. Hu, H., Hilton, M. J., Tu, X., Yu, K., Ornitz, D. M. and Long, F. (2005). Sequential roles of Hedgehog and Wnt signaling in osteoblast development. Development 132, 49-60. (Pubitemid 40207966)
21. Hu, T., Yamagishi, H., Maeda, J., McAnally, J., Yamagishi, C. and Srivastava, D. (2004). Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors. Development 131, 5491-5502. (Pubitemid 39562191)
22. Ilagan, R., Abu-Issa, R., Brown, D., Yang, Y. P., Jiao, K., Schwartz, R. J., Klingensmith, J. and Meyers, E. N. (2006). Fgf8 is required for anterior heart field development. Development 133, 2435-2445. (Pubitemid 44044563)
23. 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.
24. Jiang, X., Rowitch, D. H., Soriano, P., McMahon, A. P. and Sucov, H. M. (2000). Fate of the mammalian cardiac neural crest. Development 127, 1607-1616. (Pubitemid 30234918)
25. Kioussi, C., Briata, P., Baek, S. H., Rose, D. W., Hamblet, N. S., Herman, T., Ohgi, K. A., Lin, C., Gleiberman, A., Wang, J. et al. (2002). Identification of a Wnt/Dvl/beta-catenin -> Pitx2 pathway mediating cell-type-specific proliferation during development. Cell 111, 673-685. (Pubitemid 35441249)
26. Kwon, C., Arnold, J., Hsiao, E. C., Taketo, M. M., Conklin, B. R. and Srivastava, D. (2007). Canonical Wnt signaling is a positive regulator of mammalian cardiac progenitors. Proc. Natl. Acad. Sci. USA 104, 10894-10899. (Pubitemid 47175197)
27. Laugwitz, K. L., Moretti, A., Caron, L., Nakano, A. and Chien, K. R. (2008). Islet1 cardiovascular progenitors: a single source for heart lineages? Development 135, 193-205. (Pubitemid 351228412)
28. Liao, J., Kochilas, L., Nowotschin, S., Arnold, J. S., Aggarwal, V. S., Epstein, J. A., Brown, M. C., Adams, J. and Morrow, B. E. (2004). Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum. Mol. Genet. 13, 1577-1585. (Pubitemid 39136714)
29. Lin, L., Cui, L., Zhou, W., Dufort, D., Zhang, X., Cai, C. L., Bu, L., Yang, L., Martin, J., Kemler, R. et al. (2007). Beta-catenin directly regulates Islet1 expression in cardiovascular progenitors and is required for multiple aspects of cardiogenesis. Proc. Natl. Acad. Sci. USA 104, 9313-9318. (Pubitemid 47185776)
30. Lindsay, E. A. (2001). Chromosomal microdeletions: dissecting del22q11 syndrome. Nat. Rev. Genet. 2, 858-868.
31. 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. (Pubitemid 32225843)
32. 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. (Pubitemid 32201955)
33. Mitchell, P. J., Timmons, P. M., Hebert, J. M., Rigby, P. W. and Tjian, R. (1991). Transcription factor AP-2 is expressed in neural crest cell lineages during mouse embryogenesis. Genes Dev. 5, 105-119.
34. Okano, J., Sakai, Y. and Shiota, K. (2008). Retinoic acid down-regulates Tbx1 expression and induces abnormal differentiation of tongue muscles in fetal mice. Dev. Dyn. 237, 3059-3070.
35. Park, E. J., Ogden, L. A., Talbot, A., Evans, S., Cai, C. L., Black, B. L., Frank, D. U. and Moon, A. M. (2006). Required, tissue-specific roles for Fgf8 in outflow tract formation and remodeling. Development 133, 2419-2433. (Pubitemid 44044562)
36. Qyang, Y., Martin-Puig, S., Chiravuri, M., Chen, S., Xu, H., Bu, L., Jiang, X., Lin, L., Granger, A., Moretti, A. et al. (2007). The renewal and differentiation of Isl1+ cardiovascular progenitors are controlled by a Wnt/beta-catenin pathway. Cell Stem Cell 1, 165-179. (Pubitemid 47224618)
37. Scambler, P. J. (2000). The 22q11 deletion syndromes. Hum. Mol. Genet. 9, 2421-2426.
38. Soriano, P. (1999). Generalized lacZ expression with the ROSA26 Cre reporter strain. Nat. Genet. 21, 70-71.
39. Sosic, D., Richardson, J. A., Yu, K., Ornitz, D. M. and Olson, E. N. (2003). Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappaB activity. Cell 112, 169-180. (Pubitemid 36144107)
40. Torres-Juan, L., Rosell, J., Morla, M., Vidal-Pou, C., Garcia-Algas, F., de la Fuente, M. A., Juan, M., Tubau, A., Bachiller, D., Bernues, M. et al. (2007). Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. Eur. J. Hum. Genet. 15, 658-663. (Pubitemid 46825055)
41. Tzahor, E. (2007). Wnt/beta-catenin signaling and cardiogenesis: timing does matter. Dev. Cell. 13, 10-13.
42. Vitelli, F., Morishima, M., Taddei, I., Lindsay, E. A. and Baldini, A. (2002a). Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum. Mol. Genet. 11, 915-922. (Pubitemid 34449779)
43. Vitelli, F., Taddei, I., Morishima, M., Meyers, E. N., Lindsay, E. A. and Baldini, A. (2002b). A genetic link between Tbx1 and fibroblast growth factor signaling. Development 129, 4605-4611. (Pubitemid 35203741)
44. Wurdak, H., Ittner, L. M., Lang, K. S., Leveen, P., Suter, U., Fischer, J. A., Karlsson, S., Born, W. and Sommer, L. (2005). Inactivation of TGFbeta signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome. Genes Dev. 19, 530-535. (Pubitemid 40314985)
45. Wurdak, H., Ittner, L. M. and Sommer, L. (2006). DiGeorge syndrome and pharyngeal apparatus development. BioEssays 28, 1078-1086. (Pubitemid 44714117)
46. Yamagishi, H., Maeda, J., Hu, T., McAnally, J., Conway, S. J., Kume, T., Meyers, E. N., Yamagishi, C. and Srivastava, D. (2003). Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev. 17, 269-281. (Pubitemid 36105898)
47. Yashiro, K., Shiratori, H. and Hamada, H. (2007). Haemodynamics determined by a genetic programme govern asymmetric development of the aortic arch. Nature 450, 285-288. (Pubitemid 350100536)
48. Yin, Y., White, A. C., Huh, S. H., Hilton, M. J., Kanazawa, H., Long, F. and Ornitz, D. M. (2008). An FGF-WNT gene regulatory network controls lung mesenchyme development. Dev. Biol. 319, 426-436.
49. Zhang, Z., Huynh, T. and Baldini, A. (2006). Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development. Development 133, 3587-3595. (Pubitemid 44614281)
50. Zweier, C., Sticht, H., Aydin-Yaylagul, I., Campbell, C. E. and Rauch, A. (2007). Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am. J. Hum. Genet. 80, 510-517. (Pubitemid 46310983)