Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract

Development

Volumn 131, Issue 13, 2004, Pages 3217-3227

  Xu, Huansheng ^a   Morishima, Masae ^a   Wylie, John N ^b,c   Schwartz, Robert J ^a   Bruneau, Benoit G ^b,c   Lindsay, Elizabeth A ^a   Baldini, Antonio ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

Author keywords

DiGeorge syndrome; Mouse; Outflow tract; Tbx1

Indexed keywords

FIBROBLAST GROWTH FACTOR 10; T BOX TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NKX2.5; TRANSCRIPTION FACTOR TBX1; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; AORTA ARCH ANOMALY; AORTOPULMONARY SEPTAL DEFECT; ARTICLE; CELL FATE; CELL PROLIFERATION; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DIGEORGE SYNDROME; FEMALE; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE TARGETING; GENETIC MANIPULATION; GENETIC REGULATION; IN VITRO STUDY; LUNG ARTERY; MORPHOGENESIS; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; TISSUE SPECIFICITY;

ANIMALIA;

EID: 4043094751     PISSN: 09501991     EISSN: None     Source Type: Journal    
DOI: 10.1242/dev.01174     Document Type: Article

References (38)

1. Agah, R., Frenkel, P. A., French, B. A., Michael, L. H., Overbeek, P. A. and Schneider, M. D. (1997). Gene recombination in postmitotic cells. Targeted expression of Cre recombinase provokes cardiac-restricted, site-specific rearrangement in adult ventricular muscle in vivo. J. Clin. Invest. 100, 169-179.
2. Agarwal, P., Wylie, J. N., Galceran, J., Arkhitko, O., Li, C., Deng, C., Grosschedl, R. and Bruneau, B. G. (2003). Tbx5 is essential for forelimb bud initiation following patterning of the limb field in the mouse embryo. Development 130, 623-633.
3. Albrecht, U., Eichele, G., Helms, J. A. and Lu, H. C. (1997). Visualization of gene expression patterns by in situ hybridization. In Molecular and Cellular Methods in Developmental Toxicology (ed. G. P. Daston), pp. 23-48. New York: CRC Press, Inc.
4. Baldini, A. (2002). DiGeorge syndrome: the use of model organisms to dissect complex genetics. Hum. Mol. Genet. 11, 2363-2369.
5. Biben, C., Weber, R., Kesteven, S., Stanley, E., McDonald, L., Elliott, D. A., Barnett, L., Koentgen, F., Robb, L., Feneley, M. et al. (2000). Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5. Circ. Res. 87, 888-895.
6. 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.
7. 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.
8. Giguere, V., Lyn, S., Yip, P., Siu, C. H. and Amin, S. (1990). Molecular cloning of cDNA encoding a second cellular retinoic acid- binding protein. Proc. Natl. Acad. Sci. USA 87, 6233-6237.
9. Hayashi, S. and McMahon, A. P. (2002). Efficient recombination in diverse tissues by a tamoxifen-inducible form of Cre: a tool for temporally regulated gene activation/inactivation in the mouse. Dev. Biol. 244, 305-318.
10. Jerome, L. A. and Papaionnou, V. E. (2001). DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat. Genet. 27, 286-291.
11. 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.
12. Kelly, R. G. and Buckingham, M. E. (2002). The anterior heart-forming field: voyage to the arterial pole of the heart. Trends Genet. 18, 210-216.
13. Kelly, R. G., Brown, N. A. and Buckingham, M. E. (2001). The arterial pole of the mouse heart forms from Fgf10-expressing cells in pharyngeal mesoderm. Dev. Cell 1, 435-440.
14. Kirby, M. L. and Waldo, K. L. (1995). Neural crest and cardiovascular patterning. Circ. Res. 77, 211-215.
15. Kisanuki, Y. Y., Hammer, R. E., Miyazaki, J., Williams, S. C., Richardson, J. A. and Yanagisawa, M. (2001). Tie2-Cre transgenic mice: a new model for endothelial cell-lineage analysis in vivo. Dev. Biol. 230, 230-242.
16. 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.
17. Lee, H. H., Norris, A., Weiss, J. B. and Frasch, M. (2003). Jelly belly protein activates the receptor tyrosine kinase Alk to specify visceral muscle pioneers. Nature 425, 507-512.
18. Li, J., Chen, F. and Epstein, J. A. (2000). Neural crest expression of Cre recombinase directed by the proximal Pax3 promoter in transgenic mice. Genesis 26, 162-164.
19. Lindsay, E. A. (2001). Chromosomal microdeletions: dissecting del22q11 syndrome. Nat. Rev. Genet. 2, 858-868.
20. 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.
21. 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.
22. Lyons, I., Parsons, L. M., Hartley, L., Li, R., Andrews, J. E., Robb, L. and Harvey, R. P. (1995). Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeobox gene Nkx2-5. Genes Dev. 9, 1654-1666.
23. Merscher, S., Funke, B., Epstein, J. A., Heyer, J., Puech, A., Min 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.
24. Mjaatvedt, C. H., Nakaoka, T., Moreno-Rodriguez, R., Norris, R. A., Kern, M. J., Eisenberg, C. A., Turner, D. and Markwald, R. R. (2001). The outflow tract of the heart is recruited from a novel heart-forming field. Dev. Biol. 238, 97-109.
25. Moses, K. A., DeMayo, F., Braun, R. M., Reecy, J. L. and Schwartz, R. J. (2001). Embryonic expression of an Nkx2-5/Cre gene using ROSA26 reporter mice. Genesis 31, 176-180.
26. Phillips, M. T., Kirby, M. L. and Forbes, G. (1987). Analysis of cranial neural crest distribution in the developing heart using quail-chick chimeras. Circ. Res. 60, 27-30.
27. Sohal, D. S., Nghiem, M., Crackower, M. A., Witt, S. A., Kimball, T. R., Tymitz, K. M., Penninger, J. M. and Molkentin, J. D. (2001). Temporally regulated and tissue-specific gene manipulations in the adult and embryonic heart using a tamoxifen-inducible Cre protein. Circ. Res. 89, 20-25.
28. Soriano, P. (1999). Generalized lacZ expression with the ROSA26 Cre reporter strain [letter]. Nat. Genet. 21, 70-71.
29. Tanaka, M., Chen, Z., Bartunkova, S., Yamasaki, N. and Izumo, S. (1999). The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development. Development 126, 1269-1280.
30. van den Hoff, M. J., Moorman, A. F., Ruijter, J. M., Lamers, W. H., Bennington, R. W., Markwald, R. R. and Wessels, A. (1999). Myocardialization of the cardiac outflow tract. Dev. Biol. 212, 477-490.
31. Verrou, C., Zhang, Y., Zurn, C., Schamel, W. W. and Reth, M. (1999). Comparison of the tamoxifen regulated chimeric Cre recombinases MerCreMer and CreMer. Biol. Chem. 380, 1435-1438.
32. Vitelli, F., Lindsay, E. A. and Baldini, A. (2002a). Genetic dissection of the DiGeorge syndrome phenotype. Cold Spring Harbor Symp. Quant. Biol. LXVII, 327-332.
33. Vitelli, F., Morishima, M., Taddei, I., Lindsay, E. A. and Baldini, A. (2002b). Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum. Mol. Genet. 11, 915-922.
34. Vitelli, F., Taddei, I., Morishima, M., Meyers, E. N., Lindsay, E. A. and Baldini, A. (2002c). A genetic link between Tbx1 and fibroblast growth factor signaling. Development 129, 4605-4611.
35. Vitelli, F., Viola, A., Morishima, M., Pramparo, T., Baldini, A. and Lindsay, E. (2003). TBX1 is required for inner ear morphogenesis. Hum. Mol. Genet. 12, 2041-2048.
36. Waldo, K. L., Kumiski, D. H., Wallis, K. T., Stadt, H. A., Hutson, M. R., Platt, D. H. and Kirby, M. L. (2001). Conotruncal myocardium arises from a secondary heart field. Development 128, 3179-3188.
37. Yagi, H., Furutani, Y., Hamada, H., Sasaki, T., Asakawa, S., Minoshima, S., Ichida, F., Joo, K., Kimura, M., Imamura, S.-i. et al. (2003). Role of TBX1 in human del22q11.2 syndrome. Lancet 362, 1366-1373.
38. Yelbuz, T. M., Waldo, K. L., Kumiski, D. H., Stadt, H. A., Wolfe, R. R., Leatherbury, L. and Kirby, M. L. (2002). Shortened outflow tract leads to altered cardiac looping after neural crest ablation. Circulation 106, 504-510.