RXRα deficiency confers genetic susceptibility for aortic sac, conotruncal, atrioventricular cushion, and ventricular muscle defects in mice

Journal of Clinical Investigation

Volumn 98, Issue 6, 1996, Pages 1332-1343

  Gruber, Peter J ^a,b   Kubalak, Steven W ^a,b   Pexieder, Tomas ^c   Sucov, Henry M ^d   Evans, Ronald M ^e   Chien, Kenneth R ^a  

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF LAUSANNE   (Switzerland)

^d UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^e HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

congenital; development; heart; mouse; vitamin A

Indexed keywords

RETINOL;

ANIMAL EXPERIMENT; ANIMAL MODEL; AORTOPULMONARY SEPTAL DEFECT; ARTICLE; ATRIOVENTRICULAR BLOCK; CONGENITAL HEART DISEASE; CONTROLLED STUDY; ENDOCARDIAL CUSHION DEFECT; GENE DOSAGE; GENE TARGETING; GENETIC SUSCEPTIBILITY; HEART MUSCLE CELL; HEART RIGHT VENTRICLE DOUBLE OUTLET; MOLECULAR MODEL; MORPHOGENESIS; MOUSE; MUSCLE DISEASE; NONHUMAN; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRIORITY JOURNAL;

EID: 0029780320     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118920     Document Type: Article

References (23)

1. Payne, R.M., M.C. Johnson, J.W. Grant, and A.W. Strauss. 1995. Toward a molecular understanding of congenital heart disease. Circulation. 91:494-504.
2. Curran, M.E., D.L. Atkinson, A.K. Ewart, C.A. Morris, M.F. Leppert, and M.T. Keating. 1993. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell. 73:159-168.
3. Basson, C.T., G.S. Cowley, S.D. Solomon, B. Weissman, A.K. Poznanski, T.A. Traill, J.G. Seidman, and C.E. Seidman. 1993. The clinical and genetic spectrum of the Holt-Oram syndrome (Hand-Heart syndrome). N. Engl. J. Med. 330:885-891.
4. Budarf, M.L., J. Collins, W. Gong, B. Roe, Z. Wang, L.C. Bailey, B. Sellinger, D. Michaud, D.A. Driscoll, and B.S. Emanuel. 1995. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nat. Genet. 10:269-277.
5. Burn, J., A. Takao, D. Wilson, I. Cross, K. Momma, R. Wadey, P. Scambler, and J. Goodship. 1993. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J. Med. Genet. 30:807-812.
6. de la Chapelle, A., R. Herva, M. Koivista, and P. Aula. 1981. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum. Genet. 57:253-256.
7. Goldmuntz, E., D. Driscoll, M.L. Budarf, E.H. Zackai, D.M. McDonald-McGinn, J.A. Biegel, and B.S. Emanuel. 1993. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J. Med. Genet. 30:807-812.
8. Lammer, E.J., D.T. Chen, R.M. Hoar, N.D. Agnish, P.J. Benke, J.T. Braun, C.J. Curry, P.M. Fernhoff, A.W. Grix Jr., I.T. Lott, et al. 1985. Retinoic acid embryopathy. N. Engl. J. Med. 313:837-841.
9. Wilson, J.G., and J. Warkany. 1949. Aortic-arch and cardiac anomalies in offspring of vitamin A deficient rats. Am. J. Anat. 83:113-155.
10. Wilson, J.G., C.B. Roth, and J. Warkany. 1953. An analysis of the syndrome of malformations induced by maternal vitamin A deficiency. Effects of restoration of vitamin A at various times during gestation. Am. J. Anat. 92:189-217.
11. Li, E., H.M. Sucov, K.F. Lee, R.M. Evans, and R. Jaenisch. 1993. Normal development and growth of mice carrying a targeted disruption of the alpha 1 retinoic acid receptor gene. Proc. Natl. Acad. Sci. USA. 90:1590-1594.
12. Lufkin, T., D. Lohnes, M. Mark, A. Dierich, P. Gorry, M.P. Gaub, M. LeMeur, and P. Chambon. 1993. High postnatal letahlity and testis degeneration in retinoic acid receptor alpha mutant mice. Proc. Natl. Acad. Sci. USA. 90: 7225-7229.
13. Mendelsohn, C., M. Mark, P. Dolle, A. Dierich, M.P. Gaub, A. Krust, C. Lampron, and P. Chambon. 1994. Retinoic acid receptor beta 2 (RAR beta 2) null mutant mice appear normal. Dev. Biol. 166:246-258.
14. Lohnes, D., P. Kastner, A. Dierich, M. Mark, M. LeMeur, and P. Chambon. 1993. Function of retinoic acid receptor gamma in the mouse. Cell. 73:643-658.
15. Mendelsohn, C., D. Lohnes, D. Decimo, T. Lufkin, M. LeMeur, P. Chambon, and M. Mark. 1994. Function of the retinoic acid receptors (RARs) during develoment (II). Multiple abnormalities at various states of organogenesis in RAR double mutants. Development (Camb.). 120:2749-2771.
16. Sucov, H.M., E. Dyson, C.L. Gumeringer, J. Price, K.R. Chien, and R.M. Evans. 1994. RXRα mutant mice establish a genetic basis for vitamin A signaling in heart morphogenesis. Genes Dev. 8:1007-1018.
17. Kastner, P., J.M. Grondona, M. Mark, A. Gansmuller, M. LeMeur, D. Decimo, J.L. Vonesch, P. Dolle, and P. Chambon. 1994. Genetic analysis of RXRα developmental function: convergence of RXR and RAR signaling pathways in heart and eye morphogenesis. Cell. 78:987-1003.
18. Dyson, E., H.M. Sukov, S.W. Kubalak, G. Schmid Schönbein, F. Delano, R.M. Evans, J. Ross, and K.R. Chien. 1995. Atrial-like phenotype is associated with embryonic ventricular failure in RXRα -/- mice. Proc. Natl. Acad. Sci. USA. 92:7386-7390.
19. Pexieder, T. 1986. Standardized method for study of normal and abnormal cardiac development in chick, rat, mouse, dog, and human embryos. Teratology. 33:91C-92C.
20. Pexieder, T. 1981. Prenatal development of the endocardium: a review. Scanning Electron Microscopy 2:223-253.
21. Moscoso, G., and T. Pexieder. 1990. Variations in microscopic anatomy and ultrastructure of human embryonic hearts subjected to three different modes of fixation. Pathol. Res. Pract. 186:768-774.
22. Wilkinson, D.G. 1992. Whole mount in situ hybridization of vertebrate embryos. In In situ Hybridization: A Practical Approach. IRL Press, Oxford, UK. 155-171.
23. Harvey, M., H. Vogel, D. Morris, A. Bradley, A. Bernstein, and L.A. Donehower. 1995. A mutant p53 transgene accelerates tumor development in heterozygous but not nullizygous p53-deficient mice. Nat. Genet. 9:305-311.