DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways

Human Molecular Genetics

Volumn 9, Issue 11, 2000, Pages 1681-1690

  Fuentes, Juan J ^a   Genescà, Lali ^a   Kingsbury, Tami J ^b   Cunningham, Kyle W ^b   Pérez Riba, Mercè ^a   Estivill, Xavier ^a   De La Luna, Susana ^a  

^a HOSPITAL DURAN I REYNALS   (Spain)

^b JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCINEURIN; GENE PRODUCT; PHOSPHOPROTEIN PHOSPHATASE;

ANIMAL CELL; ARTICLE; BRAIN; CELL NUCLEUS; CHROMOSOME 21; CONTROLLED STUDY; DOWN SYNDROME; EVOLUTION; FETUS; GENE EXPRESSION; GENE OVEREXPRESSION; GENE TRANSLOCATION; GENETIC TRANSCRIPTION; HEART; HUMAN; HUMAN CELL; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DOMAIN; SIGNAL TRANSDUCTION; SKELETAL MUSCLE;

AMINO ACID SEQUENCE; ANIMALS; BINDING SITES; CALCINEURIN; CALCIUM; CELL NUCLEUS; COS CELLS; DNA-BINDING PROTEINS; DOWN SYNDROME; GENE EXPRESSION REGULATION; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; NFATC TRANSCRIPTION FACTORS; NUCLEAR PROTEINS; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; RNA; SEQUENCE HOMOLOGY, AMINO ACID; SIGNAL TRANSDUCTION; TRANS-ACTIVATION (GENETICS); TRANSCRIPTION FACTORS; TUMOR CELLS, CULTURED;

EID: 0034234543     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (44)

1. Epstein, C.J. (1995) Down Syndrome (Trisomy 21). In Scriber, C.R., Beaudet, A.L., Sly, W.S. and Vaile, D. (eds), The Metabolic and Molecular Basis of Inherited Diseases. McGraw-Hill, Inc., New York, Vol. 1, pp. 749-794.
2. Antonarakis, S.E. (1998) 10 years of Genomics, chromosome 21, and Down syndrome. Genomics, 51, 1-16.
3. Fuentes, J.J., Pritchard, M.A., Planas, A.M., Bosch, A., Ferrer, I. and Estivill, X. (1995) A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart. Hum. Mol. Genet., 4, 1935-1944.
4. Fuentes, J.J., Pritchard, M.A. and Estivill, X. (1997) Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene. Genomics, 44, 358-361.
5. 2+-regulated transcriptional repressor. Nature, 398, 80-84.
6. Chawla, S., Hardingham, G.E., Quinn, D.R. and Bading, H. (1998) CBP: a signal-regulated transcriptional coactivator controlled by nuclear calcium and CaM kinase IV. Science, 281, 1505-1509.
7. 2+, calcineurin, and NF-AT. Cell, 96, 611-614.
8. Rao, A., Luo, C. and Hogan, P.G. (1997) Transcription factors of the NFAT family: regulation and function. Annu. Rev. Immunol., 15, 707-747.
9. Molkentin, J.D., Lu, J.R., Antos, C.L., Markham, B., Richardson, J., Robbins, J., Grant, S.R. and Olson, E.N. (1998) A calcineurin-dependent pathway for cardiac hypertrophy. Cell, 93, 215-228.
10. Musaro, A., McCullagh, K.J., Naya, F.J., Olson, E.N. and Rosenthal, N. (1999) IGF-1 induces skeletal myocyte hypertrophy through calcineurin in association with GATA-2 and NF-ATc1. Nature, 400, 581-585.
11. 2+-dependent calcineurin signalling pathway. Nature. 400, 576-581.
12. Chin, E.R., Olson, E.N., Richardson, J.A., Yang, Q., Humphries, C., Shelton, J.M., Wu, H., Zhu, W., Bassel-Duby, R. and Williams, R.S. (1998) A calcineurin-dependent transcriptional pathway controls skeletal muscle fiber type. Genes Dev., 12, 2499-2509.
13. de la Pompa, J.L., Timmerman, L.A., Takimoto, H., Yoshida, H., Elia, A.J., Samper, E., Potter, J., Wakeham, A., Marengere, L., Langille, B.L. et al. (1998) Role of the NF-ATc transcription factor in morphogenesis of cardiac valves and septum. Nature, 392, 182-186.
14. Ranger, A.M., Grusby, M.J., Hodge, M.R., Gravallese, E.M., De la Brousse, F.C., Hoey, T., Mickanin, C., Baldwin, H.S. and Glimcher, L.H. (1998) The transcription factor NF-ATc is essential for cardiac valve formation. Nature, 392, 186-189.
15. Ho, I.C., Kim, J.H., Rooney, J.W., Spiegelman, B.M. and Glimcher, L.H. (1998) A potential role for the nuclear factor of activated T cells family of transcriptional regulatory proteins in adipogenesis. Proc. Natl Acad. Sci. USA, 95, 15537-15541.
16. Klee, C.B., Ren, H. and Wang, X. (1998) Regulation of the calmodulin-stimulated protein phosphatase calcineurin. J. Biol. Chem., 273, 13367-13370.
17. Kissinger, C.R., Parge, H.E., Knighton, D.R., Lewis, C.T., Pelletier, L.A., Tempczyk, A., Kalish, V.J., Tucker, K.D., Showalter, R.E., Moomaw, E.W. et al. (1995) Crystal structures of human calcineurin and the human FKBP12-FK506-calcineurin complex. Nature, 378, 641-644.
18. Griffith, J.P., Kim, J.L., Kim, E.E., Sintchak, M.D., Thomson, J.A., Fitzgibbon, M.J., Fleming, M.A., Caron, P.R., Hsiao, K. and Navia, M.A. (1995) X-ray structure of calcineurin inhibited by the immunophilin-immunosuppressant FKBP12-FK506 complex. Cell, 82, 507-522.
19. Fields, S. and Song, O. (1989) A novel genetic system to detect protein-protein interaction. Nature, 340, 245-246.
20. Guerini, D. and Klee, C.B. (1989) Cloning of human calcineurin A: evidence for two isozymes and identification of a polyproline structural domain. Proc. Natl Acad. Sci. USA, 23, 9183-9187.
21. Mizayaki, T., Kanou, Y., Murata, Y., Ohmori, S., Niwa, T., Maeda, K., Yamamura, H. and Seo, H. (1996) Molecular cloning of a novel thyroid hormone-responsive gene, ZAKI-4, in human skin fibroblasts. J. Biol. Chem., 271, 14567-14571.
22. Beals, C.R., Clipstone, N.A., Ho, S.N. and Crabtree, G.R. (1995) Nuclear localization of NF-ATc by a calcineurin-dependent, cyclosporin-sensitive intramolecular interaction. Genes Dev., 11, 824-834.
23. Masuda, E.S., Liu, J., Imamura, R., Imai, S.I., Arai, K.I. and Arai, N. (1997) Control of NFATx1 nuclear translocation by a calcineurin-regulated inhibitory domain. Mol. Cell. Biol., 17, 2066-2075.
24. Northrop, J.P., Ullman, K.S. and Crabtree, G.R. (1993) Characterization of the nuclear and cytoplasmic components of the lymphoid-specific nuclear factor of activated T cells. J. Biol. Chem., 268, 2917-2923.
25. Jain, J., McCaffrey, P.G., Miner, Z., Kerppola, T.K., Lambert, J.N., Verdine, G.L., Curran, T. and Rao, A. (1993) The T-cell transcription factor NFATp is a substrate for calcineurin and interacts with Fos and Jun. Nature, 365, 352-355.
26. Deng, T. and Karin, M. (1993) JunB differs from c-Jun in its DNA binding and dimerization domains, and represses c-Jun by formation of inactive heterodimers. Genes Dev., 7, 479-490.
27. Görlich, D. and Mattaj, I.W. (1996) Nucleocytoplasmic transport. Science, 271, 1513-1518.
28. Crawford, D.R., Leahy, K.P., Abramova, N., Lan, L., Wang, Y. and Davies, K.J. (1997) Hamster adapt78 mRNA is a Down syndrome critical region homologue that is inducible by oxidative stress. Arch. Biochem. Biophys., 342, 6-12.
29. Korenberg, J.R., Chen, X.N., Schipper, R., Sun, Z., Gonsky, R., Gerwehr, S., Carpenter, N., Daumer, C., Dignan, P., Disteche, C. et al. (1994) Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc. Natl Acad. Sci. USA, 91, 4997-5001.
30. Kashishian, A., Howard, M., Loh, C., Gallatin, M., Hoekstra, M.F. and Lai, Y. (1998) AKAP79 inhibits calcineurin through a site distinct from the immunophilin binding region. J. Biol. Chem., 273, 27412-27419.
31. Jiang, B. and Cyert, M.S. (1999) Identification of a novel region critical for calcineurin function in vivo and in vitro. J. Biol. Chem., 274, 18543-18551.
32. Lai, M.M., Burnett, P.E., Wolosker, H., Blackshaw, S. and Snyder, S.H. (1998) Cain, a novel physiologic protein inhibitor of calcineurin. J. Biol. Chem., 273, 18325-18331.
33. Sun, L., Woun, H.-D., Loh, C., Stolow, M., He, W. and Liu, J.O. (1998) Cabin 1, a negative regulator for calcineurin signaling in T lymphocytes. Immunity, 8, 703-711.
34. Aramburu, J., Garcia-Cózar, F., Raghavan, A., Okamura, H., Rao, A. and Hogan, P.G. (1998) Selective inhibition of NFAT activation by a peptide spanning the calcineurin targeting site of NFAT. Mol. Cell, 1, 627-637.
35. Brillantes, A.B., Ondrias, K., Scott, A., Kobrinsky, E., Ondriasova, E., Moschella, M.C., Jayaraman, T., Landers, M., Ehrlich, B.E. and Marks, A.R. (1994) Stabilization of calcium release channel (ryanodine receptor) function by FK506 binding protein. Cell, 77, 513-523.
36. Cardenas, M.E., Hemenway, C., Muir, R.S., Ye, R., Fiorentino, D. and Heitman, J. (1994) Immunophilins interact with calcineurin in the absence of exogenous immunosuppressive ligands. EMBO J., 13, 5944-5957.
37. 2+ flux. Cell, 83, 463-472.
38. Klauck, T.M., Faux, M.C., Labudda, K., Langeberg, L.K., Jaken, S. and Scott, J.D. (1996) Coordination of three signaling enzymes by AKAP79, a mammalian scaffold protein. Science, 271, 1589-1592.
39. Miskin, J.E., Abrams, C.C., Goatley, L.C. and Dixon, L.K. (1998) A viral mechanism for inhibition of the cellular phosphatase calcineurin. Science, 281, 562-565.
40. Lin, X., Sikkink, R.A., Rusnak, F. and Barber, D.L. (1999) Inhibition of calcineurin phosphatase activity by a calcineurin B homologous protein. J. Biol. Chem., 274, 36125-36131.
41. Garcia-Cozar, F.J., Okamura, H., Aramburu, J.F., Shaw, K.T.Y., Pelletier, L., Showalter, R., Villafranca, E. and Rao, A. (1998) Two-site interaction of nuclear factor of activated T cells with activated calcineurin. J. Biol. Chem., 273, 23877-23883.
42. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
43. de la Luna, S., Allen, K.E., Mason, S. and La Thangue, N.B. (1999) Integration of a growth-suppressing BTB/POZ domain protein with the DP component of the E2F transcription factor. EMBO J., 18, 212-228.
44. Shikama, N., Lee, C.W., France, S., Delavaine, L., Lyon, J., Krstic-Demonacos, M. and La Thangue, N.B. (1999) A novel cofactor for p300 that regulates the p53 response. Mol. Cell, 4, 365-376.