Lack of Gata3 results in conotruncal heart anomalies in mouse

Mechanisms of Development

Volumn 126, Issue 1-2, 2009, Pages 80-89

  Raid, Raivo ^a   Krinka, Dagni ^a   Bakhoff, Lairi ^a   Abdelwahid, Eltyeb ^b   Jokinen, Eero ^c   Kärner, Martin ^a   Malva, Merly ^a   Meier, Riho ^a   Pelliniemi, Lauri J ^b   Ploom, Merlin ^a   Sizarov, Aleksander ^a   Pooga, Margus ^a   Karis, Alar ^a  

^a UNIVERSITY OF TARTU   (Estonia)

^b UNIVERSITY OF TURKU   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Aorta; Double outlet of right ventricle; Endothelium; Gata3 transcription factor; Interrupted aortic arch; Outflow tract; Pulmonary trunk; Semilunar valves; Ventricular septal defect; Wnt11

Indexed keywords

BETA ADRENERGIC RECEPTOR STIMULATING AGENT; BETA GALACTOSIDASE; TRANSCRIPTION FACTOR GATA 3;

ANIMAL EXPERIMENT; ANIMAL MODEL; AORTA ARCH ANOMALY; AORTOPULMONARY SEPTAL DEFECT; ARTICLE; CELL LINEAGE; CONTROLLED STUDY; EMBRYO; ENZYME ACTIVITY; GENE EXPRESSION; HEART DEVELOPMENT; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE SEPTUM DEFECT; MOUSE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; REPORTER GENE;

ANIMALS; EMBRYO, MAMMALIAN; GATA3 TRANSCRIPTION FACTOR; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, REPORTER; HEART DEFECTS, CONGENITAL; IN SITU HYBRIDIZATION; MICE; MICE, KNOCKOUT; NEURAL CREST; PHENOTYPE; RNA, MESSENGER;

EID: 57649239003     PISSN: 09254773     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mod.2008.10.001     Document Type: Article

References (51)

1. Bachiller D., Klingensmith J., Shneyder N., Tran U., Anderson R., Rossant J., and De Robertis E.M. The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome. Development 130 (2003) 3567-3578
2. Cai C.L., Liang X., Shi Y., Chu P.H., Pfaff S.L., Chen J., and Evans S. Isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart. Dev. Cell 5 (2003) 877-889
3. Crawford S.E., Qi C., Misra P., Stellmach V., Rao M.S., Engel J.D., Zhu Y., and Reddy J.K. Defects of the heart, eye, and megakaryocytes in peroxisome proliferator activator receptor-binding protein (PBP) null embryos implicate GATA family of transcription factors. J. Biol. Chem. 277 (2002) 3585-3592
4. Daw S.C., Taylor C., Kraman M., Call K., Mao J., Schuffenhauer S., Meitinger T., Lipson T., Goodship J., and Scambler P. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat. Genet. 13 (1996) 458-460
5. de Lange F.J., Moorman A.F., Anderson R.H., Manner J., Soufan A.T., De Gier-de Vries C., Schneider M.D., Webb S., van den Hoff M.J., and Christoffels V.M. Lineage and morphogenetic analysis of the cardiac valves. Circ. Res. 95 (2004) 645-654
6. Dickson M.C., Slager H.G., Duffie E., Mummery C.L., and Akhurst R.J. RNA and protein localisations of TGF beta 2 in the early mouse embryo suggest an involvement in cardiac development. Development 117 (1993) 625-639
7. Epstein J.A., and Buck C.A. Transcriptional regulation of cardiac development: implications for congenital heart disease and DiGeorge syndrome. Pediatr. Res. 48 (2000) 717-724
8. Firulli A.B., and Thattaliyath B.D. Transcription factors in cardiogenesis: the combinations that unlock the mysteries of the heart. Int. Rev. Cytol. 214 (2002) 1-62
9. Frank D.U., Fotheringham L.K., Brewer J.A., Muglia L.J., Tristani-Firouzi M., Capecchi M.R., and Moon A.M. An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. Development 129 (2002) 4591-4603
10. Garg V., Yamagishi C., Hu T., Kathiriya I.S., Yamagishi H., and Srivastava D. Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development. Dev. Biol. 235 (2001) 62-73
11. George K.M., Leonard M.W., Roth M.E., Lieuw K.H., Kioussis D., Grosveld F., and Engel J.D. Embryonic expression and cloning of the murine GATA-3 gene. Development 120 (1994) 2673-2686
12. Gottlieb S., Driscoll D.A., Punnett H.H., Sellinger B., Emanuel B.S., and Budarf M.L. Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. Am. J. Hum. Genet. 62 (1998) 495-498
13. Greenberg F., Elder F.F., Haffner P., Northrup H., and Ledbetter D.H. Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Am. J. Hum. Genet. 43 (1988) 605-611
14. Hadchouel J., Tajbakhsh S., Primig M., Chang T.H., Daubas P., Rocancourt D., and Buckingham M. Modular long-range regulation of Myf5 reveals unexpected heterogeneity between skeletal muscles in the mouse embryo. Development 127 (2000) 4455-4467
15. Hendriks R.W., Nawijn M.C., Engel J.D., van Doorninck H., Grosveld F., and Karis A. Expression of the transcription factor GATA-3 is required for the development of the earliest T cell progenitors and correlates with stages of cellular proliferation in the thymus. Eur. J. Immunol. 29 (1999) 1912-1918
16. Hogan B. Manipulating the Mouse Embryo: a Laboratory Manual (1994), Cold Spring Harbor Laboratory Press, Plainview, NY pp. xvii, 497
17. Jiang X., Rowitch D.H., Soriano P., McMahon A.P., and Sucov H.M. Fate of the mammalian cardiac neural crest. Development 127 (2000) 1607-1616
18. Jiang X., Choudhary B., Merki E., Chien K.R., Maxson R.E., and Sucov H.M. Normal fate and altered function of the cardiac neural crest cell lineage in retinoic acid receptor mutant embryos. Mech. Dev. 117 (2002) 115-122
19. Karis A., Pata I., van Doorninck J.H., Grosveld F., de Zeeuw C.I., de Caprona D., and Fritzsch B. Transcription factor GATA-3 alters pathway selection of olivocochlear neurons and affects morphogenesis of the ear. J. Comp. Neurol. 429 (2001) 615-630
20. Kaufman C.K., Zhou P., Pasolli H.A., Rendl M., Bolotin D., Lim K.C., Dai X., Alegre M.L., and Fuchs E. GATA-3: an unexpected regulator of cell lineage determination in skin. Genes Dev. 17 (2003) 2108-2122
21. Kelly R.G. Molecular inroads into the anterior heart field. Trends Cardiovasc. Med. 15 (2005) 51-56
22. Kelly R.G., Brown N.A., and Buckingham M.E. The arterial pole of the mouse heart forms from Fgf10-expressing cells in pharyngeal mesoderm. Dev. Cell 1 (2001) 435-440
23. Kirby M.L., Gale T.F., and Stewart D.E. Neural crest cells contribute to normal aorticopulmonary septation. Science 220 (1983) 1059-1061
24. Lakshmanan G., Lieuw K.H., Lim K.C., Gu Y., Grosveld F., Engel J.D., and Karis A. Localization of distant urogenital system-, central nervous system-, and endocardium-specific transcriptional regulatory elements in the GATA-3 locus. Mol. Cell. Biol. 19 (1999) 1558-1568
25. Levenberg S., Zoldan J., Basevitch Y., and Langer R. Endothelial potential of human embryonic stem cells. Blood 110 (2007) 806-814
26. Li J., Chen F., and Epstein J.A. Neural crest expression of Cre recombinase directed by the proximal Pax3 promoter in transgenic mice. Genesis 26 (2000) 162-164
27. Lichtner P., Attie-Bitach T., Schuffenhauer S., Henwood J., Bouvagnet P., Scambler P.J., Meitinger T., and Vekemans M. Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p. J. Mol. Med. 80 (2002) 431-442
28. Lilleväli K., Matilainen T., Karis A., and Salminen M. Partially overlapping expression of Gata2 and Gata3 during inner ear development. Dev. Dyn. 231 (2004) 775-781
29. Lim K.C., Lakshmanan G., Crawford S.E., Gu Y., Grosveld F., and Engel J.D. Gata3 loss leads to embryonic lethality due to noradrenaline deficiency of the sympathetic nervous system. Nat. Genet. 25 (2000) 209-212
30. Mendelsohn C., Lohnes D., Decimo D., Lufkin T., LeMeur M., Chambon P., and Mark M. Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants. Development 120 (1994) 2749-2771
31. Nakamura T., Colbert M.C., and Robbins J. Neural crest cells retain multipotential characteristics in the developing valves and label the cardiac conduction system. Circ. Res. 98 (2006) 1547-1554
32. Niederreither K., Vermot J., Schuhbaur B., Chambon P., and Dolle P. Retinoic acid synthesis and hindbrain patterning in the mouse embryo. Development 127 (2000) 75-85
33. Niederreither K., Vermot J., Messaddeq N., Schuhbaur B., Chambon P., and Dolle P. Embryonic retinoic acid synthesis is essential for heart morphogenesis in the mouse. Development 128 (2001) 1019-1031
34. Ono Y., Fukuhara N., and Yoshie O. TAL1 and LIM-only proteins synergistically induce retinaldehyde dehydrogenase 2 expression in T-cell acute lymphoblastic leukemia by acting as cofactors for GATA3. Mol. Cell. Biol. 18 (1998) 6939-6950
35. Oosterwegel M., Timmerman J., Leiden J., and Clevers H. Expression of GATA-3 during lymphocyte differentiation and mouse embryogenesis. Dev. Immunol. 3 (1992) 1-11
36. Pandolfi P.P., Roth M.E., Karis A., Leonard M.W., Dzierzak E., Grosveld F.G., Engel J.D., and Lindenbaum M.H. Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis. Nat. Genet. 11 (1995) 40-44
37. Pata I., Studer M., van Doorninck J.H., Briscoe J., Kuuse S., Engel J.D., Grosveld F., and Karis A. The transcription factor GATA3 is a downstream effector of Hoxb1 specification in rhombomere 4. Development 126 (1999) 5523-5531
38. Restivo A., Piacentini G., Placidi S., Saffirio C., and Marino B. Cardiac outflow tract: a review of some embryogenetic aspects of the conotruncal region of the heart. Anat. Rec. A Discov. Mol. Cell. Evol. Biol. 288 (2006) 936-943
39. Stalmans I., Lambrechts D., De Smet F., Jansen S., Wang J., Maity S., Kneer P., von der Ohe M., Swillen A., Maes C., Gewillig M., Molin D.G., Hellings P., Boetel T., Haardt M., Compernolle V., Dewerchin M., Plaisance S., Vlietinck R., Emanuel B., Gittenberger-de Groot A.C., Scambler P., Morrow B., Driscol D.A., Moons L., Esguerra C.V., Carmeliet G., Behn-Krappa A., Devriendt K., Collen D., Conway S.J., and Carmeliet P. VEGF: a modifier of the del22q11 (DiGeorge) syndrome?. Nat. Med. 9 (2003) 173-182
40. Stoller J.Z., and Epstein J.A. Cardiac neural crest. Semin. Cell Dev. Biol. 16 (2005) 704-715
41. Takagi S., Fujikawa K., Imai T., Fukuhara N., Fukudome K., Minegishi M., Tsuchiya S., Konno T., Hinuma Y., and Yoshie O. Identification of a highly specific surface marker of T-cell acute lymphoblastic leukemia and neuroblastoma as a new member of the transmembrane 4 superfamily. Int. J. Cancer 61 (1995) 706-715
42. Van Doorninck J.H., van Der Wees J., Karis A., Goedknegt E., Engel J.D., Coesmans M., Rutteman M., Grosveld F., and De Zeeuw C.I. GATA-3 is involved in the development of serotonergic neurons in the caudal raphe nuclei. J. Neurosci. 19 (1999) RC12
43. Van Esch H., and Bilous R.W. GATA3 and kidney development: why case reports are still important. Nephrol. Dial. Transplant. 16 (2001) 2130-2132
44. Van Esch H., Groenen P., Fryns J.P., Van de Ven W., and Devriendt K. The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome. Genet. Couns. 10 (1999) 59-65
45. Van Esch H., Groenen P., Nesbit M.A., Schuffenhauer S., Lichtner P., Vanderlinden G., Harding B., Beetz R., Bilous R.W., Holdaway I., Shaw N.J., Fryns J.P., Van de Ven W., Thakker R.V., and Devriendt K. GATA3 haplo-insufficiency causes human HDR syndrome. Nature 406 (2000) 419-422
46. Waldo K., Miyagawa-Tomita S., Kumiski D., and Kirby M.L. Cardiac neural crest cells provide new insight into septation of the cardiac outflow tract: aortic sac to ventricular septal closure. Dev. Biol. 196 (1998) 129-144
47. Waldo K.L., Lo C.W., and Kirby M.L. Connexin 43 expression reflects neural crest patterns during cardiovascular development. Dev. Biol. 208 (1999) 307-323
48. Ward C., Stadt H., Hutson M., and Kirby M.L. Ablation of the secondary heart field leads to tetralogy of Fallot and pulmonary atresia. Dev. Biol. 284 (2005) 72-83
49. Vermot J., Niederreither K., Garnier J.M., Chambon P., and Dolle P. Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. Proc. Natl. Acad. Sci. USA 100 (2003) 1763-1768
50. Wilkinson D. Whole-mount in situ hybridization of vertebrate embryos. In: Wilkinson D.G. (Ed). In situ Hybridization: a Practical Approach (1993), IRL Press, Oxford 75-83
51. Wilson D.I., Burn J., Scambler P., and Goodship J. DiGeorge syndrome: part of CATCH 22. J. Med. Genet. 30 (1993) 852-856