Cardiac defects and altered ryanodine receptor function in mice lacking FKBP 12

Nature

Volumn 391, Issue 6666, 1998, Pages 489-492

  Shou, Weinian ^a   Aghdasi, Bahman ^a   Armstrong, Dawna L ^a   Guo, Qiuxia ^a   Bao, Shideng ^a   Charng, Min Ji ^a   Mathews, Lawrence M ^b   Schneider, Michael D ^a   Hamilton, Susan L ^a   Matzuk, Martin M ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FK 506 BINDING PROTEIN; RYANODINE RECEPTOR; TRANSFORMING GROWTH FACTOR BETA;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CALCIUM TRANSPORT; CONTROLLED STUDY; EMBRYO; EXENCEPHALY; FEMALE; HEART DILATATION; HEART VENTRICLE SEPTUM DEFECT; MALE; MOUSE; NEURAL TUBE DEFECT; NONHUMAN; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ACTIVINS; AMINO ACID ISOMERASES; ANIMALS; BRAIN; CARDIOMYOPATHY, DILATED; CARRIER PROTEINS; DNA-BINDING PROTEINS; FEMALE; FETAL DEATH; GENE DELETION; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS; HEAT-SHOCK PROTEINS; INHIBINS; MALE; MICE; MICE, INBRED C57BL; MUSCLE, SKELETAL; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SIGNAL TRANSDUCTION; TACROLIMUS BINDING PROTEINS; TRANSFORMING GROWTH FACTOR BETA;

ANIMALIA;

EID: 0032576689     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/35146     Document Type: Article

References (30)

1. Snyder, S. H. & Sabatini, D. M. Immunophilins and the nervous system. Nature Med. 1, 32-37 (1995).
2. Wang, T. et al. The immunophilin FKBP12 functions as a common inhibitor of the TGFβ family type I receptors. Cell 86, 435-444 (1996).
3. Chen, Y.-G., Liu, F. & Massagué, J. Mechanisms of TGFβ receptor inhibition by FKBP12. EMBO 13, 3866-3876 (1997).
4. Charng, M.-J., Kinnunen, P., Hawker, J., Brand, T. & Schneider, M. D. FKBP12 recognition is dispensable for signal generation by type I transforming growth factor-β receptors. J. Biol. Chem. 271, 22941-22944 (1996).
5. Okadome, T. et al. Characterization of the interaction of FKBP12 with the transforming growth factor-β type 1 receptor in vivo. J. Biol. Chem. 271, 21687-21690 (1996).
6. Zimmerman, C. M. & Mathews, L. S. Activin receptors: cellular signalling by receptor serine kinases. Biochem. Soc. Symp. 62, 25-38 (1996).
7. Jayaraman, T. et al. FK506-binding protein associated with the calcium release channel (ryanodine receptor). J. Biol. Chem. 267, 9474-9477 (1992).
8. Brillantes, A. B. et al. Stabilization of calcium release channel (ryanodine receptor) function by FK506-binding protein. Cell 77, 513-523 (1994).
9. Timerman, A. P. et al. Selective binding of FKBP12.6 by the cardiac ryanodine receptor. J. Biol. Chem, 271, 20385-20391 (1996).
10. Lam, E. et al. A novel FK506 binding protein can mediate the immunosuppressive effects of FK506 and is associated with the cardiac ryanodine receptor. J. Biol. Chem. 270, 26511-26522 (1995).
11. Chin, T. K., Perlof, J. K., Williams, R. G., Jue, K. & Mohrmann, T. Isolated noncompaction of left ventricular myocardium, a study of eight cases. Circulation 82, 507-513 (1990).
12. Ritter, M. et al. Isolated noncompaction of the myocardium in adults. Mayo Clin. Proc. 72, 26-31 (1997).
13. Van Duyne, G. D., Standaert, R. R, Karplus, P. A. & Schrieber, S. L. Atomic structure of FKBP-FK506, an immunophilin-immunosuppressant complex. Science 252, 839-842 (1991).
14. Rossant, J. Mouse mutants and cardiac development, new molecular insights into cardiogenesis. Circ. Res. 78, 349-353 (1996).
15. Olson, E. N. & Srivastava, D. Molecular pathways controlling heart development. Science 272, 671-676 (1996).
16. Chen, Z.-F. & Behringer, R. R. Twist is required in head mesenchyme for cranical neural tube morphogenesis. Genes Dev. 9, 686-699 (1995).
17. Zhao, Q., Behringer, R. R. & Crombrugghe, B. Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cartl homeobox gene. Nature Genet. 13, 275-283 (1996).
18. Lau, A. L., Shou, W., Guo, Q. & Matzuk, M. M. in Inhibin, Activin and Follistatin (eds Aono, T., Sugino, H. & Vale, W. W.) 220-243 (Springer, New York, 1997).
19. Tanaka, N. et al. Transthoracic echocardiography in models of cardiac disease in the mouse. Circulation 94, 1109-1117 (1996).
20. Arber, A. et al. MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure. Cell 88, 393-403 (1997).
21. Lamb, G, D. & Stephenson, D. G. Effects of FK506 and rapamycin on excitation-contraction coupling in skeletal muscle fibers in the rat. J. Physiol. 494, 569-576 (1996).
22. Takeshima, H. et al. Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene. Nature 369, 556-559 (1994).
23. Atkison, P. et al. Hypertrophic cardiomyopathy associated with tacrolimus in paediatric transplant patients. Lancet 345, 894-896 (1995).
24. Okata, K. et al. The role of an immunophilin, FKBP12, in chick embryonic cardiac development Circulation 94 (suppl. 1) 1-120 (1996).
25. Näbauar, M., Callewaert, G., Cleemann, L. & Morad, M. Regulation of calcium release is gated by calcium current, not gating charge, in cardiac myocytes. Science 244, 800-803 (1989).
26. Rowe, L. B. et al. Maps from two interspecific backcross DNA panels available as a community genetic mapping resource. Mammal. Genome 5, 253-274 (1994).
27. Dilella, A. G., Hawkins, A., Craig, R. J., Schreiber, S. L. & Griffin, C. A. Chromosomal band assignments of the genes encoding human FKBP12 and FKBP12.6. Biochem. Biophys. Res. Commun. 189, 819-823 (1992).
28. Bradley, A. Teratocarcinomas and Embryonic Stem Cells: a Practical Approach (ed. Robinson, E. J.) 113-151 (IRL, Oxford, 1987).
29. Albrecht, U., Eichele, G., Helms, J. A. & Lu, H.-C. in Molecular and Cellular Methods in Developmental Toxicology (ed. Daston, G. P.) 23-48 (CRC, Boca Raton, 1997).
30. 2+ release channel. J. Biol. Chem. 272, 3739-3748 (1997).