Congenital heart disease reminiscent of partial trisomy 2p syndrome in mice transgenic for the transcription factor Lbh

Development

Volumn 132, Issue 14, 2005, Pages 3305-3316

  Briegel, Karoline J ^a,d   Baldwin, H Scott ^b   Epstein, Jonathan A ^c   Joyner, Alexandra L ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Congenital heart disease; Gene regulation; Heart development; Lbh (Limb bud and heart); Mouse; Nkx2.5; Tbx5

Indexed keywords

ANKYRIN; REGULATOR PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR LBH; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL CULTURE; CHROMOSOME 2P; CHROMOSOME MAP; CONGENITAL HEART DISEASE; CONTROLLED STUDY; EMBRYO; ENZYME ACTIVITY; ENZYME REPRESSION; GENE ACTIVATION; GENE OVEREXPRESSION; GENETIC ASSOCIATION; GENETIC REGULATION; HEART DEVELOPMENT; HEART MUSCLE; HEART MUSCLE CELL; HEART OUTFLOW TRACT OBSTRUCTION; MOUSE; NONHUMAN; PARTIAL TRISOMY; PARTIAL TRISOMY 2P SYNDROME; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FUNCTION; TRANSCRIPTION REGULATION; TRANSGENIC MOUSE;

ANIMALS; CHROMOSOME MAPPING; HEART; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS; HEART SEPTUM; HEART VENTRICLES; MICE; MICE, TRANSGENIC; MYOCARDIUM; NUCLEAR PROTEINS; PHENOTYPE; PROMOTER REGIONS (GENETICS); REPRESSOR PROTEINS; TRANSCRIPTION FACTORS; TRISOMY;

ANIMALIA; CYPRINUS CARPIO; MAMMALIA; MUS MUSCULUS;

EID: 23844448677     PISSN: 09501991     EISSN: None     Source Type: Journal    
DOI: 10.1242/dev.01887     Document Type: Article

References (60)

1. Barnett, J. V. and Desgrosellier, J. S. (2003), Early events in valvulogenesis: a signaling perspective. Birth Defects 69, 58-72.
2. Bartram, U., Molin, D. G. M., Wisse, L. J., Mohamad, A., Sanford, L. P., Doetschman, T., Speer, C. P., Poelmann, R. E. and Gittenberger-de Groot, A. C. (2001). Double-outlet right ventricle and overriding tricuspid valve reflect disturbances of looping, myocardialization, endocardial cushion differentiation, and apopotosis in TGF-β2-knockout mice. Circulation 103, 2745-2752.
3. 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 cause limb and cardiac malformation in Holt-Oram syndrome. Nat. Genet. 15, 30-35.
4. Benson, D. W., Silberbach, G. M., Kavanaugh-McHugh, A., Cottrill, C., Zhang, Y., Riggs, S., Smalls, O., Johnson, M. C., Watson, M. S., Seidman, J. G. et al. (1999). Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. Nat. Genet. 15, 30-35.
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. Boyer, A. S., Ayerinskas, I. I., Vincent, E. B., McKinney, L. A., Weeks, D. L. and Runyan, R. B. (1999). TGFβ2 and TGFβ3 have separate and sequential activities during epithelial-mesenchymal cell transformation in the embryonic heart. Dev. Biol. 208, 530-545.
7. Briegel, K. J. and Joyner, A. L. (2001). Identification and characterization of Lbh, a novel conserved nuclear protein expressed during early limb and heart development. Dev. Biol. 233, 291-304.
8. Bruneau, B. G., Logan, M., Davis, N., Levi, T., Tabin, C. J., Seidman, J. G. and Seidman, C. E. (1999). Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome. Dev. Biol. 211, 100-108.
9. 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.
10. Camenisch, T. D., Molin, D. G. M., Person, A., Runyan, R. B., Gittenberger-de Groot, A. C., McDonald, J. A. and Klewer, S. E. (2002). Temporal and distinct TGFβ ligand requirements during mouse and avian endocardial cushion morphogenesis. Dev. Biol. 248, 170-181.
11. Capdevila, J., Vogan, K. J., Tabin, C. J. and Izpisua Belmonte, J. C. (2000). Mechanisms of left-right deterimination in vertebrates. Cell 101, 9-21.
12. Cassidy, S. B., Heller, R. M., Chazen, E. M. and Engel, E. (1977). The chromosome 2 distal short arm trisomy syndrome. J. Pediatr. 91, 934-938.
13. Chen, F., Kook, H., Milewski, R., Gitler, A. D., Lu, M. M., Li, J., Nazarian, R., Schnepp, R., Jen, K., Biben, C. et al. (2002). Hop is an unusual homeobox gene that modulates cardiac development. Cell 110, 713-723.
14. Chen, H. and Johnson, R. L. (1999). Dorsoventral patterning of the vertebrate limb: a process governed by multiple events. Cell Tissue Res. 296, 67-73.
15. Donovan, J., Kordylewska, A., Jan, Y. N. and Utset, M. F. (2002). Tetralogy of fallot and other congenital heart defects in Hey2 mutant mice. Curr. Biol. 12, 1605-1610.
16. Durocher, D., Charron, F., Warren, R., Schwartz, R. J. and Nemer, M. (1997). The cardiac transcription factors Nkx2-5 and GATA-4 are mutual colactors. EMBO J. 16, 5687-5696.
17. Fishman, M. C. and Chien, K. R. (1997). Fashioning the vertebrate heart: earliest embryonic decisions. Development 124, 2099-2117.
18. Francke, U. and Jones, K. L. (1976). The 2p partial trisomy syndrome. Duplication of region 2p23 leads to 2pter in two members of a t(2;7) translocation kindred. Am. J. Dis. Child. 130, 1244-1249.
19. Garg, V., Kathiriya, I. S., Barnes, R., Schluterman, M. K., King, I. N., Butler, C. A., Rothrock, C. R., Eapen, R. S., Hirayama-Yamada, K., Joo, K. et al. (2003). GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424, 443-447.
20. Gawantka, V., Pollet, N., Delius, H., Vingron, M., Pfister, R., Nitsch, R., Blumenstock, C. and Niehrs, C. (1998). Gene expression screening in Xenopus identifies molecular pathways, predicts gene function and provides a global view of embryonic patterning. Mech. Dev. 77, 95-141.
21. Goldmuntz, E., Clark, B. J., Michell, L. E., Jawad, A. F., Cuneo, B. F., Reed, L., McDonald-McGinn, D., Chien, P., Feuer, J., Zackai, E. H. et al. (1998). Frequency of 22q11 deletions in patients with conotruncal defects. J. Am. Coll. Cardiol. 32, 492-498.
22. Hahm, G. K., Barth, R. F., Schauer, G. M., Reiss, R. and Opitz, J. M. (1999). Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly. Am. J. Med. Genet. 87, 45-48.
23. 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.
24. Hogan, B. M. L., Beddington, R. S. P., Constantini, F. and Lacy, E. (1994). Manipulating the Mouse Embryo. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
25. Hofmann, J. I. and Kaplan, S. (2002). The incidence of congenital heart disease. J. Am. Coll. Cardiol. 39, 1890-1900.
26. Huang, C., Sheikh, F., Hollander, M., Cai, C., Becker, D., Chu, P.-H., Evans, S. and Chen, J. (2003). Embryonic atriall function is essential for mouse embryogenesis, cardiac morphogenesis and angiogenesis. Development 130, 6111-6119.
27. 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.
28. Kimmel, R. A., Turnbull, D. H., Blanquet, V., Wurst, W., Loomis, C. A. and Joyner, A. L. (2000). Two lineage boundaries coordinate vertebrate apical ectodermal ridge formation. Genes Dev. 14, 1377-1389.
29. Kirby, M. L. (1999). Contribution of neural crest to heart and vessel morphology. In Heart Development (ed. R. Harvey and N. Rosenthal), pp. 179-193. San Diego, CA: Academic Press.
30. Kuo, H., Chen, J., Ruiz-Lozano, P., Zou, Y., Nemer. M. and Chien, K. R. (1999). Control of segmental expression of the cardiac-restricted ankyrin repeat protein gene by distinct regulatory pathways in murine caidiogenesis. Development 126, 4223-4234.
31. Larsen, W. J. (1997). Human Embryology. Philadelphia: Churchill Livingston.
32. le Noble, F., Moyon, D., Pardanaud, L., Yuan, L., Djonov, V., Matthijsen, R., Breant, C., Fleury, V. and Eichmann, A. (2003). Flow regulates arterial-venous differentiation in the chick embryo yolk sac. Development 131, 361-375.
33. Li, L., Krantz, I. D., Deng, Y., Genin, A., Banta, A. B., Collins, C. C., Qi, M., Trask. B. J., Kuo, W. L., Cochran, J. et al. (1997). Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat. Genet. 16, 243-251.
34. Liberatore, C. M., Searcy-Schrick, R. D. and Yutzey, K. E. (2000). Ventricular expression of tbx5 inhibits normal heart chamber development. Dev. Biol. 223, 169-180.
35. 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.
36. Lints, T. J., Parsons, L. M., Hartley, L., Lyons, I. and Harvey, R. P. (1993). Nkx-2.5: a novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants. Development 119, 969.
37. Lurie, I. W., Ilyina, H. G., Gurevich, D. B., Rumyantseva, N. V., Naumchik, I. V., Castellan, C., Hoeller, A. and Schinzel, A. (1995). Trisomy 2p: analysis of unusual phenotypic findings. Am. J. Med. Genet. 55, 229-236.
38. 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 homeo box gene Nkx2-5. Genes Dev. 9, 1654-1666.
39. Merscher, S., Funke, B. A., 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 foi cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 104, 619-629.
40. Millino, C., Sarinella, F., Tiveron, C., Villa, A., Sartore, S. and Ausoni, S. (2000). Cardiac and smooth muscle cell contribution to the formation of the murine pulmonary venis. Dev. Dyn. 218, 414-425.
41. Molkentin, J. D., Lin, Q., Duncan, S. A. and Olson, E. N. (1997). Requirements of the transcription factor GATA-4 for heart tube formation and ventral morphogenesis. Genes Dev. 11, 1061-1072.
42. Neu, R. L., Dennis, N. R. and Fisher, J. E. (1979). Partial 2p trisomy in a 46,XY,der(5),t(2;5)(p23;p15)pat infant; autopsy findings. Ann. Genet. 22, 33-34.
43. Noseda, M., McLean, G., Niessen, K., Chang, L., Pollet, I, Montpetit, R., Shahidi, R., Dorovini-Zis, K., Li, L., Beckstead, B. et al. (2004). Notch activation results in phenotypic and functional changes consistent with endothelial-to-mesenchymal transformation. Circ. Res. 94, 910-917.
44. Oda, T., Elkahloun, A. G., Pike, B. L., Okajima, K., Krantz, I. D., Genin, A., Piccoli, D. A., Meltzer, P. S., Spinner, N. B., Collins, F. S. et al. (1997). Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat. Genet. 16, 235-242.
45. Paris, J. and Philippe, M. (1990). Poly(A) metabolism and polysomal recruitment of maternal mRNAs during early Xenopus development. Dev. Biol. 140, 221-224.
46. Paris, J., Osborne, H. B., Couturier, A., Le Guellec, R. and Philippe, M. (1988). Changes in the polyadenylation of specific stable RNA during the early development of Xenopus laevis. Gene 72, 169-176.
47. Pasumarthi, K. B. S. and Field, L. J. (2002). Cardiomyocyte cell cycle regulation. Circ. Res. 90, 1044-1054.
48. Pu, W. T., Ishiwata, T., Juraszek, A. L., Ma, Q. and Izumo, S. (2004). GATA4 is a dosage-sensitive regulator of cardiac morphogenesis. Dev. Biol. 275, 235-244.
49. Schaeren-Wiemers, N. and Gerfin-Moser, A. (1993). A single protocol to detect transcripts of various types and expression levels in neural tissue and cultured cells: in situ hybridization using dioxigenin-labeled cRNA probes. Histochemistry 100, 431-440.
50. Schott, J. J., Benson, D. W., Basson, C. T., Pease, W., Silberbach, G. M., Moak, J. P., Maron, B. J., Seidman, C. E. and Seidman, J. G. (1998). Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 281, 108-111.
51. Shin, C. H., Liu, Z. P., Passier, R., Zhang, C. L., Wang, D. Z., Harris, T. M., Yamagishi, H., Richardson, J. A., Childs, G. and Olson, E. N. (2002). Modulation of cardiac growth and development by HOP, an unusual homeodomam protein. Cell 110, 725-735.
52. Takeuchi, J. K., Ohgi, M., Koshiba-Takeuchi, K., Shiratori, H., Sakaki, I., Ogura, K., Saijoh, Y. and Ogura, T. (2003). Tbx5 specifies the left/right ventricles and ventricular septum position during cardiogenesis. Development 130, 5953-5964.
53. Taylor Clelland, C. L., Levy, B., McKie, J. M., Duncan, A. M., Hirschhorn, K. and Bancroft, C. (2000). Cloning and characterization of human PREB; a gene that maps to a genomic region associated with trisomy 2p syndrome. Mamm. Genome 11, 675-681.
54. Therkelsen, A. J., Hultén, M., Jonasson, J., Lindsten, J., Christensen, N. C. and Iversen, T. (1973). Presumptive direct insertion within chromosome 2 in man. Ann. Hum. Genet. 36, 367-373.
55. Tickle, C. (1999). Morphogen gradients in vertebrate limb development. Semin. Cell Dev. Biol. 10, 345-351.
56. Timmerman, L. A., Grego-Bessa, J., Raya, A., Bertran, E., Perez-Pomares, J. M., Diez, J., Aranda, S., Palomo, S., McCormick, F., Izpisua Belmonte, J. C. et al. (2004). Notch promotes epithelial-mesenchymal transition during cardiac development and oncogenic transformation. Genes Dev. 18, 99-115.
57. van den Hoff, M. J. B., Moorman, A. F. M., 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.
58. Wilkinson, D. G. (1992). Whole mount in situ hybridization of vertebrate embryos. In In Situ Hybridizatton (ed. D. G. Wilkinson), pp. 939-947. Oxford: IRL Press.
59. Zeller, R., Bloch, K. D., Williams, B. S., Arceci, R. J. and Seidman, C. E. (1987). Localized expression of the atrial natriuretic factor gene during cardiac embryogenesis. Genes Dev. 1, 693-698.
60. Zou, Y., Evans, S., Chen, J.. Kuo, H. C., Harvey, R. P. and Chien, K. R. (1997). Carp, a cardiac ankyrin repeat protein, is downstream in the Nkx2-5 homeobox gene pathway. Development 124, 793-804.