Chapter 29 The genetics and biology of vitamin D

Principles of Medical Biology

Volumn 10, Issue C, 1997, Pages 617-641

  Deluca, Hector F ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0344481607     PISSN: 15692582     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S1569-2582(97)80174-2     Document Type: Chapter

References (142)

1. 3 25-hydroxylase cDNA in Saccharomyces cerevisiae. FEBS Lett. 280 2 (1991) 367-370
2. Akiyoshi-Shibata M., Sakaki T., Ohyama Y., Noshiro M., Okuda K., and Yabusaki Y. Further oxidation of hydroxy calcidiol 24-hydroxylase. A study with the mature enzyme expressed in Escherichia coli. Eur. J. Biochem. 224 (1994) 335-343
3. Aloia J.F. Role of calcitriol in the treatment of postmenopausal osteoporosis. Metabolism 39 (1990) 35-38
4. Anzano M.A., Smith J.M., Uskokovic M.R., Peer C.W., Mullen L.T., Letterio J.J., Welsh M.C., Shrader M.W., Logsdon D.L., and Driver C.L. 1α,25-Dihydroxy-16-ene-23-yne-26,27-hexafluorocholecalciferol (Ro24-5531), a new deltanoid (vitamin D analogue) for prevention of breast cancer in the rat. Cancer Res. 54 7 (1994) 1653-1656
5. Askew F.A., Bourdillon R.B., Bruce H.M., Jenkins R.G.C., and Webster T.A. The distillation of vitamin D. Proc. Roy. Soc. B107 (1931) 76-90
6. Baker A.R., McDonnell D.P., Hughes M., Crisp T.M., Mangelsdorf D.J., Haussler M.R., Pike J.W., Shine J., and O'Malley B.W. Cloning and expression of full-length cDNA encoding human vitamin D receptor. Proc. Natl. Acad. Sci. USA 85 (1988) 3294-3298
7. 3-24-hydroxylase, a multicatalytic enzyme. Biochemistry 35 25 (1996) 8465-8472
8. Boyle I.T., Gray R.W., and DeLuca H.F. Regulation by calcium of in vivo synthesis of 1,25-dihydroxycholecalciferol and 21,25-dihydroxycholecalciferol. Proc. Natl. Acad. Sci. USA 68 (1971) 2131-2134
9. Boyle I.T., Miravet L., Gray R.W., Holick M.F., and DeLuca H.F. The response of intestinal calcium transport to 25-hydroxy and 1,25-dihydroxy vitamin D in nephrectomized rats. Endocrinology 90 (1972) 605-608
10. 3. Endocrine Rev. 6 (1985) 491-511
11. Brown A.J., Perlman K., Schnoes H.K., and DeLuca. A new tritium-release assay for 25-hydroxyvitamin D-1-hydroxylase. Analyt. Biochem. 164 (1987) 424-429
12. 3 action. J. Biol. Chem. 265 (1990) 10025-10029
13. Brumbaugh P.F., and Haussler M.R. Nuclear and cytoplasmic binding components for vitamin D metabolites. Life Sci. 16 (1975) 353-362
14. 3 synthesis in the kidney. Nature 276 (1978) 287-289
15. 3 24-hydroxylase. Biochemistry 25 (1986) 2692-2696
16. 3 receptor cDNA. Proc. Natl. Acad. Sci. USA 85 (1988) 1005-1009
17. 3 receptor. Proc. Natl. Acad. Sci. USA 85 (1988) 9499-9502
18. Caniggia A., Nuti R., Lore F., Martini G., Turchetti V., and Righi G. Long-term treatment with calcitriol in postmenopausal osteoporsis. Metabolism 39 (1990) 43-49
19. 3 reversibly blocks the progression of relapsing encephalomyelitis. Proc. Natl. Acad. Sci. USA 93 (1996) 7861-7864
20. Chen K.-S., and DeLuca H.F. Cloning of the human 1α,25-dihydroxyvitamin D-3 24-hydroxylase gene promoter and identification of two vitamin D-responsive elements. Biochim. Biophys. Acta 1263 (1995) 1-9
21. 3 24-hydroxylase cDNA. Proc. Natl. Acad. Sci. USA 90 (1993) 4543-4547
22. 3 target cells in immature pancreatic islets. Am. J. Physiol. 253 (1987) E99-E105
23. Cooke N.E., and David E.V. Serum vitamin D-binding protein is a third member of the albumin and alpha fetoprotein gene family. J. Clin. Invest. 76 6 (1985) 2420-2424
24. Cooke N.E., Willard H.F., David E.V., and George D.L. Direct regional assignment of the gene for vitamin D binding protein (Gc-globulin) to human chromosome 4q11-q13 and identification of an associated DNA polymorphism. Human Genetics 73 3 (1986) 225-229
25. 3 in rat liver: Roles of mitochondrial and microsomal cytochrome P-450. Biochim. Biophys. Res. Commun. 142 3 (1987) 999-1005
26. 3: Interaction with distinct receptor domains. Biochemistry 25 (1986) 4523-4534
27. 3 receptor. Biochim. Biophys. Acta 1167 (1993) 29-36
28. Darwish H., and DeLuca H.F. In: Stein G.S., Stein J.L., and Lian J.B. (Eds). Critical Reviews in Eukaryotic Gene Expression Vol. 3 (1993), CRC Press, Boca Raton, FL 89-116 2
29. 3 receptor to positive and negative vitamin D response elements. Arch. Biochem. Biophys. 334 2 (1996) 223-234
30. DeLuca H.F. Vitamin D: The vitamin and the hormone. Fed. Proc. 33 (1974) 2211-2219
31. DeLuca H.F. The vitamin D story: A collaborative effort of basic science and clinical medicine. FASEB J. 2 (1988) 224-236
32. DeLuca H.F. Application of new vitamin D compounds to disease. Drug News Perspect. (DN&P) 5 (1992) 87-92
33. DeLuca H.F., and Avioli L.V. In: Black D., and Jones N.F. (Eds). Renal Disease (1979), Blackwell Scientific Publications, London 766-803
34. 3. Proc. Natl. Acad. Sci. USA 89 (1992) 8097-8101
35. 3. Endocrinology 112 (1983) 200-206
36. 3. Cancer Res. 47 (1987) 21-26
37. 3 and the regulation of human cancer cell replication. Proc. Soc. Exp. Biol. Med. 191 (1989) 221-226
38. Ellaroussi M.A., Prahl J.M., and DeLuca H.F. The avian vitamin D receptors: Primary structures and their origins. Proc. Natl. Acad. Sci. USA 91 (1994) 11596-11600
39. Emerick R.J., Zile M., and DeLuca H.F. Formation of retinoic acid from retinol in the rat. Biochem. J. 102 (1967) 606-611
40. 3 hydroxylase associated protein. J. Biol. Chem. 269 (1994) 176-182
41. Fraser D., Kooh S.W., Kind H.P., Holick M.F., Tanaka Y., and DeLuca H.F. Pathogenesis of hereditary vitamin D dependent rickets: An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1α,25-dihydroxyvitamin D. N. Engl. J. Med. 289 (1973) 817-822
42. 3: Short- and long term effects on bone and calcium metabolism in patients with postmenopausal osteoporsis. Proc. Natl. Acad. Sci. USA 79 (1982) 3325-3329
43. Garabedian M., Holick M.F., DeLuca H.F., and Boyle I.T. Control of 25-hydroxycholecalciferol metabolism by the parathyroid glands. Proc. Natl. Acad. Sci. USA 69 (1972) 1673-1676
44. 450: A component of chick kidney 25-hydroxycholecalciferol-1α-hydroxylase. J. Biol. Chem. 249 (1974) 3026-3033
45. Ghazarian J.G., Schnoes H.K., and DeLuca H.F. Mechanism of 25-hydroxycholecalciferol 1α-hydroxylation. Incorporation of oxygen-18 into the 1α position of 25-hydroxycholecalciferol. Biochemistry 12 (1973) 2555-2558
46. Glorieux F.H., Marie P.J., Pettifor J.M., and Delvin E.E. Bone response to phosphate salts, ergocalciferol, and calcitriol in hypophosphatemic vitamin D-resistant rickets. N. Engl. J. Med. 303 (1980) 1023-1031
47. Glorieux F., and Scriver C.R. Loss of a parathyroid-sensitive component of phosphate transport in X-linked hypophosphatemia. Science 175 (1972) 997-1000
48. Hahn C.N., Baker E., Laslo P., May B.K., and Omdahl J.F. Localization of the human vitamin D 24-hydroxylase gene (CYP24) to chromosome 20q13.2→→q.13.3. Cytogenet. Cell Genet. 62 4 (1993) 192-193
49. Halloran B.P., and DeLuca H.F. Effect of vitamin D deficiency on fertility and reproductive capacity in the female rat. J. Nutr. 110 (1980) 1573-1580
50. 3. Arch. Biochem. Biophys. 118 (1967) 145-153
51. 3 25-hydroxylase of rat liver microsomes. J. Biochem. 103 5 (1988) 863-866
52. Henry H.L., and Norman A.W. Vitamin D: Two dihydroxyvitamin metabolites are required for normal chicken egg hatchability. Science 201 (1978) 835-837
53. 3 modulates phosphorylation of serine 205 in the human vitamin D receptor: Site-directed mutagenesis of this residue promotes alternative phosphorylation. Biochemistry 33 (1994) 4300-4311
54. Holick M.F. The cutaneous photosynthesis of previtamin D3: A unique photoendocrine system. J. Invest. Dermatol. 76 (1981) 51-58
55. Holick M.F. The photobiology of vitamin D and its consequences for human. Ann. N.Y. Acad. Sci. 453 (1985) 1-13
56. 3 and the skin: A unique application for the treatment of psoriasis. Proc. Soc. Exp. Biol. Med. 191 (1989) 246-257
57. Holick M.F. In: Goldsmith L.A. (Ed). Physiology, Biochemistry, and Molecular Biology of the Skin. 2nd edn (1991), Oxford University Press, New York 928-956
58. Holick M.F. Vitamin D and Its Analogues. The Second International Forum on Calcified Tissue and Bone Metabolism (1993), Chugai Pharmaceutical Co., Tokyo, Japan 48-51
59. Holick M.F., and Clark M.B. The photobiogenesis and metabolism of vitamin D. Fed. Proc. 37 (1978) 2567-2574
60. 3 active on bone in anephric rats. Science 176 (1972) 1146-1147
61. 3. Science 190 (1975) 576-578
62. Holick M.F., Schnoes H.K., DeLuca H.F., Suda T., and Cousins R.J. Isolation and identification of 1,25-dihydroxycholecalciferol. A metabolite of vitamin D active in intestine. Biochemistry 10 (1971) 2799-2804
63. 2+ priming during vitamin D-induced monocytic differentiation of a human leukemia cell line. J. Biol. Chem. 263 (1988) 16039-16045
64. Hughes M.R., Malloy P.J., Kieback D.G., Kesteron R.A., Pike J.W., Feldman D., and O'Malley B.W. Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science 242 (1988) 1702-1706
65. Huldshinsky K. Heilung von rachitis durch künstliche höhensonne. Deut. Med. Wochschr. 45 (1919) 712-713
66. in press. Jehan F., and Deluca H.F. Cloning and characterization of the mouse vitamin D receptor promoter. Proc. Natl. Acad. Sci. USA (1997)
67. Kamei Y., Kawada T., Fukuwatari T., Ono T., Kato S., and Sugimoto E. Cloning and sequencing of the gene encoding the mouse vitamin D receptor. Gene 152 (1995) 281
68. Kamei Y., Kawada T., Fukuwatari T., Ono T., Kato S., and Sugimoto E. Cloning and sequencing of the gene encoding the mouse vitamin D receptor. Gene 152 (1995) 281-282
69. Kandutsch A.A. In: Montagna W., and Lobitz W.C. (Eds). The Epidermis (1964), Academic Press, New York 493-510
70. 3 dependency of VDR-RXR-VDRE complex formation. Arch. Biochem. Biophys. 341 1 (1997) 75-80
71. Kodicek E. In: Umbreit W., and Molitor H. (Eds). Proceedings of the Fourth International Congress of Biochemistry Vol. XI (1960), Pergamon Press, London 198-208
72. Kooh S.W., Fraser D., DeLuca H.F., Holick M.F., Belsey R.E., Clark M.B., and Murray T.M. Treatment of hypoparathyroidism and pseudohypoparathyroidism with metabolites of vitamin D: Evidence for impaired conversion of 25-hydroxyvitamin D to 1α,25-dihydroxyvitamin D. N. Engl. J. Med. 293 17 (1975) 840-844
73. 3. Arch. Biochem. Biophys. 176 (1976) 779-787
74. 3 receptor in a bacterial system. Biochim. Biophys. Res. Commun. 189 (1992) 1417-1423
75. 3 restores fertility of vitamin D-deficient female rats. Am. J. Physiol. 256 (1989) E483-E487
76. Kwiecinski G.C., Petrie G.I., and DeLuca H.F. Vitamin D is necessary for reproductive functions of the male rat. J. Nutr. 119 (1989) 741-744
77. Labuda M., Morgan K., and Glorieux F.H. Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis. Am. J. Human Gen. 47 1 (1990) 28-36
78. Leid M., Kastner P., and Chambon P. Multiplicity generates diversity in the retinoic acid signaling pathways. TIBS 17 (1992) 427-433
79. Lindsay R. Estrogen/progestogen therapy: Prevention and treatment of postmenopausal osteoporosis. Proc. Soc. Exp. Biol. Med. 191 (1989) 275-277
80. Lu Z., Hanson K., and DeLuca H.F. Cloning and origin of the two forms of chicken vitamin D receptor. Arch. Biochem. Biophys. 339 1 (1997) 99-106
81. 3 from bone, liver, and blood serum. J. Lipid Res. 7 (1966) 739-744
82. MacDonald P.N., Haussler C.A., Terpening C.M., Galligan M.A., Reeder M.C., Whitfield G.K., and Haussler M.R. Baculovirus-mediated expression of the human vitamin D receptor. Functional characterization, vitamin D response element interactions, and evidence for a receptor auxiliary factor. J. Biol. Chem. 266 (1991) 18808-18813
83. 3 and its photoisomers in human skin. Science 216 (1982) 1001-1003
84. 3: In vitro translation to characterize size and hormone-dependent regulation. Proc. Natl. Acad. Sci. USA 84 (1987) 354-358
85. 3 and the immune system. Proc. Soc. Exp. Biol. Med. 191 (1989) 238-245
86. Manolagas S.C., and Jilka R.L. Bone marrow, cytokines, and bone remodeling. Emerging insights into the pathophysiology of osteoporosis. N. Engl. J. Med. 332 5 (1995) 305-311
87. McCollum E.V., and Davis M. The necessity of certain lipids in the diet during growth. J. Biol. Chem. 15 (1913) 167-175
88. McCollum E.V., Simmonds N., Becker J.E., and Shipley P.G. Studies on experimental rickets. XXI. An experimental demonstration of the existence of a vitamin which promotes, calcium deposition. J. Biol. Chem. 53 (1922) 293-312
89. McDonnell D.P., Mangelsdorf D.J., Pike J.W., Haussler M.R., and O'Malley B.W. Molecular cloning of complementary DNA encoding the avian receptor for vitamin D. Science 235 (1987) 1214-1217
90. Mellanby E. An experimental investigation on rickets. Lancet (March 15, 1919) 407-412
91. Miyamoto K., Kesterson R.A., Yamamoto H., Taketani Y., Nishiwaki E., Tatsumi S., Inoue Y., Morita K., Takeda E., and Pike J.W. Structural organization of the human vitamin D receptor chromosomal gene and its promoter. Mol. Endocrinol. 11 (1997) 1165-1179
92. Morii H., Lund J., Neville P.F., and DeLuca H.F. Biological activity of a vitamin D metabolite. Arch. Biochem. Biophys. 120 (1967) 508-512
93. Munder M., Herzberg I.M., Zierold C., Moss V.E., Hanson K., Clagett-Dame M., and DeLuca H.F. Identification of the porcine intestinal accessory factor that enables DNA sequence recognition by vitamin D receptor. Proc. Natl. Acad. Sci. USA 92 (1995) 2795-2799
94. 3. Endocrinology 115 (1984) 1476-1484
95. 3 are both indispensable for calcium and phosphorus homeostasis. Life Sci. 27 (1980) 229-232
96. 3 24-hydroxylase. Biochemistry 32 (1993) 76-82
97. 3 24-hydroxylase. FEBS Lett. 278 (1991) 195-198
98. 3. J. Biol. Chem. 266 (1991) 8690-8695
99. 3 24-hydroxylase gene. J. Biol. Chem. 269 (1994) 10545-10550
100. 3. Bone and Mineral 3 (1987) 47-52
101. Ornoy A., Goodwin D., Noff D., and Edelstein S. 24,25-Dihydroxyvitamin D is a metabolite of vitamin D essential for bone formation. Nature 276 (1978) 517-519
102. Ott S.M., Maloney N.A., Coburn J.W., Alfrey A.C., and Sherrard D.J. The prevalence of bone aluminum deposition in renal osteodystrophy and its relation to the response to calcitriol therapy. N. Engl. J. Med. 307 (1982) 709-713
103. 3-1α-hydroxylase system. J. Biol. Chem. 251 (1976) 3933-3941
104. 3-24-hydroxylase in rat kidney mitochondria. J. Biol. Chem. 258 (1983) 742-746
105. 2 analogs which differ markedly in biological activity in vivo. J. Biol. Chem. 269 (1994) 24014-24019
106. Pike J.W., and Haussler M.R. Purification of chicken intestinal receptor for 1,25-dihydroxyvitamin D. Proc. Natl. Acad. Sci. USA 76 (1979) 5485-5489
107. 3. J. Biol. Chem. 258 (1983) 1289-1296
108. Ponchon G., and DeLuca H.F. The role of the liver in the metabolism of vitamin D. J. Clin. Invest. 48 (1969) 1273-1279
109. Ross T.K., Darwish H.M., and DeLuca H.F. In: Litwack G. (Ed). Vitamins and Hormones (1994), Academic Press, San Diego 281-326
110. 3 receptor in insect cells using the baculovirus expression system. Proc. Natl. Acad. Sci. USA 88 (1991) 6555-6559
111. 3 in rat kidney but not intestine. J. Biol. Chem. 267 (1992) 13757-13762
112. 3 from chicken intestine. Biochemistry 22 (1983) 2586-2594
113. Slatopolsky E., and Delmez J.A. Pathogenesis of secondary hyperparathyroidism. Am. J. Kidney Dis. 23 2 (1994) 229-236
114. Slatopolsky E., Weerts C., Thielan J., Horst R., Harter H., and Martin K.J. Marked suppression of secondary hyperparathyroidism by intravenous administration of 1,25-dihydroxycholecalciferol in uremic patients. J. Clin. Invest. 74 (1984) 2136-2143
115. 3 on the morphologic and biochemical differentiation of cultured human epidermal keratinocytes grown in serum-free conditions. J. Invest. Dermatol. 86 (1986) 709-714
116. Sone T., McDonnell D.P., O'Malley B.W., and Pike J.W. Expression of human vitamin D receptor in Saccharomyces cerevisiae. Purification, properties, and generation of polyclonal antibodies. J. Biol. Chem. 265 (1990) 21997-22003
117. Steenbock H., and Black A. Fat-soluble vitamins. XVII. The induction of growth-promoting and calcifying properties in a ration by exposure to ultraviolet light. J. Biol. Chem. 61 (1924) 405-422
118. Steenbock H., and Hart E.B. The influence of function on the lime requirements of animals. J. Biol. Chem. 14 (1913) 59-73
119. 3 target sites in skin. Cell Tissue Res. 238 (1984) 489-496
120. 3. Cell Tissue Res. 247 (1987) 453-455
121. 3. Science 215 (1982) 1403-1405
122. Stumpf W.E., Sar M., and DeLuca H.F. In: Cohn D.C., Talmage R.V., and Matthews J.L. (Eds). Hormonal Control of Calcium Metabolism (1981), Excerpta Medica, Amsterdam 222-229
123. 3 in intestinal tract, stomach, kidney, skin, pituitary and parathyroid. Science 206 (1979) 1188-1190
124. 3: Gonadotropic regulation of the cognate mRNA in ovaries. DNA Cell Biol. 9 9 (1990) 657-665
125. 3 with intestinal calcium transport activity. Biochemistry 9 (1970) 4776-4780
126. Suda T., Takahashi N., and Martin T.J. Modulation of osteoclast differentiation. Endocrine Rev. 13 (1992) 66-80
127. 3 receptor gene (VDR) are colocalized on human chromosome arm 12q and rat chromosome 7. Genomics 11 (1991) 168-173
128. 3 1- and 24-hydroxylases: Their in vivo regulation. Am. J. Physiol. 246 (1984) E168-E173
129. 3-24-hydroxylase. Arch. Biochem. Biophys. 171 (1975) 521-526
130. Tilyard M.W., Sprars G.F.S., Thomson J., and Dovey S. Treatment of postmenopausal osteoporsis with calcitriol or calcium. N. Engl. J. Med. 326 (1992) 357-362
131. 3-25-hydroxylase: tissue occurrence and apparent lack of regulation. Arch. Biochem. Biophys. 155 (1973) 47-57
132. Uhland A.M., Kwiecinski G.G., and DeLuca H.F. Normalization of serum calcium restores fertility in vitamin D-deficient male rats. J. Nutr. 122 (1992) 1338-1344
133. Underwood J.L., and DeLuca H.F. Vitamin D is not directly necessary for bone growth and mineralization. Am. J. Physiol. 246 (1984) E493-E498
134. 3 25-hydroxylase from rat liver mitochondria. FEBS Lett. 262 (1990) 135-138
135. 3 26,23-lactone: A new in vivo metabolite of vitamin D. Biochemistry 18 (1979) 4775-4780
136. Wiese R., Goto H., Prahl J.M., Marx S.J., Thomas M., Al-Aqueel A., and DeLuca H.F. Vitamin D-dependency rickets type II: Truncated vitamin D receptor in three kindreds. Mol. Cell Endocrinol. 90 (1993) 197-201
137. Windaus A., Schenck F., and von Werder F. Über das antirachitisch wirksame bestrahlungs-produkt aus 7-dehydro-cholesterin. Hoppe-Seylers Z. Physiol. Chem. 241 (1936) 100-103
138. Yang S., Smith C., Prahl J.M., and DeLuca H.F. Vitamin D deficiency suppresses cell-mediated immunity in vivo. Arch. Biochem. Biophys. 303 (1993) 98-106
139. 2 suppress immunoglobulin production and thymic lymphocyte proliferation in vivo. Biochim. Biophys. Acta 1158 (1993) 279-286
140. Yan X., Charette G., and Delvin E.E. Submitochondrial localization of kidney 25-hydroxycholecalciferol 1α-hydroxylase in vitamin D-repleted weanling guinea pigs. Biochem. Cell. Biol. 65 7 (1987) 673-676
141. 3) 24-hydroxylase gene. Proc. Natl. Acad. Sci. USA 91 (1994) 900-902
142. Zierold C. Ph.D. Thesis (1995), University of Wisconsin-Madison