Intron retention generates a novel isoform of the murine vitamin D receptor that acts in a dominant negative way on the vitamin D signaling pathway

Molecular and Cellular Biology

Volumn 16, Issue 7, 1996, Pages 3393-3400

  Ebihara, Kanae ^a   Masuhiro, Yoshikazu ^b   Kitamoto, Takuya ^a   Suzawa, Miyuki ^b   Uematsu, Yoshikatsu ^a   Yoshizawa, Tatsuya ^b   Ono, Toshio ^a   Harada, Hideyuki ^a   Matsuda, Koichiro ^a   Hasegawa, Tadao ^a   Masushige, Shoichi ^a   Kato, Shigeaki ^b  

^a TOKYO UNIVERSITY OF AGRICULTURE   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; THYROID HORMONE; VITAMIN RECEPTOR;

ARTICLE; CALCIUM HOMEOSTASIS; GENE EXPRESSION; GENE TARGETING; INTRON; LIGAND BINDING; PRIORITY JOURNAL; RNA SPLICING; RNA TRANSCRIPTION; SIGNAL TRANSDUCTION; THYROID HORMONE BLOOD LEVEL; TRANSACTIVATION;

EID: 15844386531     PISSN: 02707306     EISSN: None     Source Type: Journal    
DOI: 10.1128/MCB.16.7.3393     Document Type: Article

References (53)

1. Baker, A. R., D. P. McDonnell, M. Hughes, T. M. Crisp, D. J. Mangelsdorf, M. R. Haussler, J.W. Pike, J. Shine, and B. W. O'Malley. 1988. Cloning and expression of full-length cDNA encoding human vitamin D receptor. Proc. Natl. Acad. Sci. USA 85:3294-3298.
2. Beato, M. 1989. Gene regulation by steroid hormones. Cell 56:335-344.
3. Brandi, M. L. 1994. Genetics of osteoporosis. Calcif. Tissue Int. 55:161-163.
4. Burmester, J. K., N. Maeda, and H. F. DeLuca. 1988. Isolation of expression of rat 1,25-dihydroxyvitamin D3 receptor cDNA. Proc. Natl. Acad. Sci. USA 85:1005-1009.
5. Carberg, C., I. Bendik, A. Wyss, E. Meier, L. J. Sturzenbecker, J. F. Grippo, and W. Hunziker. 1993. Two nuclear signalling pathways for vitamin D. Nature (London) 361:657-660.
6. Chen, Z.-P., L. Shemshedini, B. Durand, N. Noy, P. Chambon, and H. Gronemeyer. 1994. Pure and functionally homogeneous recombinant retinoid X receptor. J. Biol. Chem. 269:25770-25776.
7. 3 receptor (VDR) homodimers into VDR-retinoid X receptor heterodimers. Mol. Cell. Biol. 14:3329-3338.
8. Darwish, H., and H. F. DeLuca. 1993. Vitamin D-regulated gene expression. Crit. Rev. Eukaryotic Gene Exp. 3:89-116.
9. Dempster, D. W., and R. L. Lindsay. 1993. Pathogenesis of osteoporosis. Nature 341:797-801.
10. Evans, R. M. 1988. The steroid and thyroid hormone receptor superfamily. Science 240:889-895.
11. Freedman, L. P., V. Arce, and R. P. Fernandez. 1994. Ligand modulates the conversion of DNA-bound vitamin D3 receptor (VDR) homodimers into VDR-retinoid X receptor heterodimers. Mol. Endocrinol. 8:265-273.
12. Gigure, V. 1994. Retinoic acid receptors and cellular retinoid binding proteins complex interplay in retinoid signaling. Endocrine Rev. 15:61-79.
13. Green, S., and P. Chambon. 1988. Nuclear receptors enhance our understanding of transcription regulation. Trends Genet. 4:309-314.
14. Gronemeyer, H. 1991. Transcription activation by oestrogen and progesterone receptors. Annu. Rev. Genet. 25:89-123.
15. Hughes, M. R., D. Malloy, D. K. Kieback, R. A. Kesterson, J. W. Pike, D. Feldman, and B. W. O'Malley. 1988. Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science 242:1702-1705.
16. 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.
17. Kastner, P., A. Krust, C. Mendelsohn, J. M. Garnier, A. Zelent, P. Leroy, A. Staub, and P. Chambon. 1990. Proc. Natl. Acad. Sci. USA 87:2700-2704.
18. Kato, S., H. Sasaki, M. Suzawa, S. Masushige, L. Tora, P. Chambon, and H. Gronemeyer. 1995. Widely spaced, directly repeated PuGGTCA elements act as promiscuous enhancers for different classes of nuclear receptors. Mol. Cell. Biol. 15:5858-5867.
19. Kato, S., L. Tora, J. Yamauchi, S. Masushige, M. Bellard, and P. Chambon. 1992. A far upstream estrogen response element of the ovalbumin gene contains several half-palindromic 5′-TGACC-3′ motifs acting synergistically. Cell 68:731-742.
20. Koszewski, N. J., T. A. Reinhardt, D. C. Beitz, and R. L. Horst. 1990 Developmental changes in rat kidney 1,25-dihydroxyvitamin D receptor. Biochem. Biophys. Res. Commun. 170:65-72.
21. Kristjansson, K., A. R. Rut, M. Hewison, J. L. H. O'Riordan, and M. R. Hughes. 1993. Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25-dihydroxyvitamin D3. J. Clin. Invest. 92:12-16.
22. Leid, M., P. Kastner, and P. Chambon. 1992. Multiplicity generates diversity in the retinoic acid signalling pathways. Trends Biochem. Sci. 17:427-433.
23. Leid, M., P. Kastner, R Lyons, H. Nakshatri, M. Saunders, T. Zacharewski, J.-Y. Chen, A. Staub, J.-M. Garnier, S. Mader, and P. Chambon. 1992. Purification, cloning, and RXR identity of the HeLa cell factor with which RAR or TR heterodimerizes to bind target sequences efficiently. Cell 68:377-395.
24. Leroy, P., A. Krust, A. Zelent, C. Mendelsohn, J.-M. Garnier, A. Zelent, A. Staub, and P. Chambon. 1991. Multiple isoforms of the mouse retinoic acid receptor β are generated by usage of two promoters and alternative splicing. EMBO J. 10:59-69.
25. Lohnes, D., P. Kastner, A. Dierich, M. Mark, M. LeMeur, and P. Chambon. 1993. Function of retinoic acid receptor γ in the mouse. Cell 73:643-658.
26. Mader, S., J.-Y. Chen, Z. Chen, J. White, P. Chambon, and H. Gronemeytr. 1993. The patterns of binding of RAR, RXR and TR homo- and heterodimers to direct repeats are dictated by the binding specificities of the DNA binding domains. EMBO J. 12:5029-5041.
27. Malloy, P. J., Z. Hochberg, D. Tiosano, J. W. Pike, M. R. Hughes, and D. Feldman. 1990. The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistance in seven related families. J. Clin. Invest. 86:2071-2079.
28. Mano, H., R. Mori, T. Ozawa, K. Takeyama, Y. Yoshizawa, R. Kojima, Y. Arao, S. Masushige, and S. Kato. 1994. Positive and negative regulation of retinoid X receptor gene expression by thyroid hormone in the rat. J. Biol. Chem. 269:1591-1594.
29. Manolagas, S., and R. I. Jilka. 1993. Bone marrow, cytokines, and bone remodeling. N. Engl. J. Med. 332:305-310.
30. McDonnell, D. P., R. A. Scott, S. A. Kerner, B. W. O'Malley, and J. W. Pike. 1989. Functional domains of the human vitamin D3 receptor regulate osteocalcin gene expression. Mol. Endocrinol. 3:635-644.
31. Meyer, M.-E., H. Gronemeyer, B. Turcotte, M.-T. Bocquel, D. Tasset, and P. Chambon. 1989. Steroid hormone receptors compete for factors that mediate their enhancer function. Cell 57:433-442.
32. Morrison, N. A., J. C. Qi, A. Tokita, P. J. Kelly, L. Crofts, T. V. Nguyen, P. N. Sambrook, and J. A. Eisman. 1994. Prediction of bone density from vitamin D receptor alleles. Nature (London) 367:284-287.
33. Morrison, N. A., R Yeoman, P. J. Kelly, and J. A. Eisman. 1992. Contribution of trans-acting factor alleles to normal physiological variability: vitamin D receptor gene polymorphisms and circulating osteocalcin. Proc, Natl. Acad. Sci. USA 89:6665-6669.
34. Nagpal, S., M. Saunders, P. Kastner, B. Durand, H. Nakshatri, and P. Chambon. 1992. Promoter context- and response element-dependent specificity of the transcriptional activation and modulating functions of retinoic acid receptors. Cell 70:1007-1019.
35. Nakajima, S., J. Hsien, P. N. MacDonald, M. A. Galligan, C. A. Haussler, G. K. Whitfield, and M. R. Haussler. 1994. C-terminal region of the vitamin D receptor is essential to form a complex with a receptor auxiliary factor required for high affinity binding to the vitamin D-responsive element. Mol. Endocrinol. 8:159-172.
36. Nakamura, Y., N. Komatsu, and H. Nakauchi. 1992. A truncated erythropoietin receptor that fails to prevent programmed cell death of erythroid cells. Science 257:1138-1142.
37. Ninomiya, V., M. Mochii, G. Eguchi, T. Hasegawa, S. Masushige, and S. Kato. 1992. Tissue-specific response of estrogen receptor gene expression to estrogen in chicks. Biochem. Biophys. Res. Commun. 187:1374-1380.
38. Orkin, S. H. 1984. The mutation and polymorphism of the human β-globin gene and its surrounding DNA. Annu. Rev. Genet. 18:131-171.
39. Parker, M. G. 1993. Steroid and related receptors. Curr. Opin. Cell Biol. 5:499-504.
40. Perlman, T., P. N. Rangarajan, K. Umesono, and R. M. Evans. 1993. Determinants for selective RAR and TR recognition of direct repeat elements. Genes Dev. 7:1411-1422.
41. Rastinejad, F., T. Perlman, R. M. Evans, and P. B. Sigler. 1995. Structural determinants of nuclear receptor assembly on DNA direct repeats. Nature (London) 375:203-211.
42. Sachs, A. B. 1993. Messenger RNA degradation in eukaryotic cell. Cell 74:413-421.
43. Sasaki, H., H. Harada, Y. Handa, H. Morino, M. Suzawa, E. Shimpo, T. Katsumata, Y. Masuhiro, K. Matsuda, K. Ebihara, T. Ono, S. Masushige, and S. Kato. 1995. Transcriptional activity of a fluorinated vitamin D analog. Biochemistry 34:370-377.
44. Sicinski, P., Y. Geng, A. S. Ryder-Cook, E. A. Barnard, M. G. Darlison, and P. J. Barnard. 1989. The molecular basis of muscular dystrophy in the mdx mouse: a point mutation. Science 244:1578-1580.
45. Spotila, L. D., C. D. Constantinou, L. Sereda, A. Ganguly, B. L. Riggs, and D. J. Prockop. 1991. Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal ostcoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. Proc. Natl. Acad. Sci. USA 88:5423-5427.
46. Sucov, H. M., E. Dyson, C. L. Gumeringer, J. Price, K. R. Chien, and R. M. Evans. 1993. RXRα mutant mice establish a genetic basis for vitamin A signaling in heart morphogenesis. Genes Dev. 8:1007-1018.
47. Tassel, D., L. Tora, C. Fromental, E. Scheer, and P. Chambon. 1990. Distinct classes of transcriptional activating domain function by different mechanisms. Cell 62:1177-1187.
48. Towers, T. L., B. F. Luisi, A. Asianov, and L. P. Freedman. 1993. DNA target selectivity by the vitamin D3 receptor: mechanism of dimer binding to an asymmetric repeat element. Proc. Natl. Acad. Sci. USA 90:6310-6314.
49. Umesono, K., and R. M. Evans. 1989. Determinants of target gene specificity for steroid/thyroid hormone receptors. Cell 57:1139-1146.
50. Umesono, K., K. Murakami, C. Thompson, and R. M. Evans. 1991. Direct repeats as selective response elements for the thyroid hormone, retinoic acid, and vitamin D3 receptors. Cell 65:1255-1266.
51. 45Ca transport in an isolated chick duodenum perfusion system. J. Steroid Biochem. 25:905-909.
52. Zechel, C., X.-Q. Shen, J.-P. Chen, P. Chambon, and H. Gronemeyer. 1994. Dimerization interfaces formed between the DNA binding domains determine the cooperative binding of RXR/RAR and RXR/TR heterodimers to DR5 and DR4 elements. EMBO J. 13:1425-1433.
53. Zelent, A., C. Mendelsohn, P. Kastner, J.-M. Garnier, F. Ruffenach, P. Leroy, and P. Chambon. 1991. Differential expression isoforms of the mouse retinoic acid receptor β are generated by usage of two promoters and alternative splicing. EMBO J. 10:71-81.