Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase

Proceedings of the National Academy of Sciences of the United States of America

Volumn 101, Issue 20, 2004, Pages 7711-7715

  Cheng, Jeffrey B ^a   Levine, Michael A ^c   Bell, Norman H ^d   Mangelsdorf, David J ^a,b   Russell, David W ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c LERNER RESEARCH INSTITUTE   (United States)

^d MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIDIOL 1 MONOOXYGENASE; CALCIFEDIOL; CYTOCHROME P450 2R1; CYTOCHROME P450 ISOENZYME; UNCLASSIFIED DRUG; VITAMIN D;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHROMOSOME 11P; CONTROLLED STUDY; EMBRYO; ENZYME ACTIVITY; ENZYME MECHANISM; EXON; GENE IDENTIFICATION; HOMOZYGOTE; HUMAN; HUMAN CELL; HYDROXYLATION; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SYNTHESIS; VITAMIN D DEFICIENCY;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; CALCIFEDIOL; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; CYTOCHROME P-450 CYP27A1; HUMANS; MALE; MITOCHONDRIA; SEQUENCE ANALYSIS, DNA; STEROID HYDROXYLASES; VITAMIN D DEFICIENCY;

EID: 2442699046     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0402490101     Document Type: Article

References (47)

1. Jones, G., Strugnell, S. A. & DeLuca, H. F. (1998) Physiol. Rev. 78, 1193-1231.
2. Cheng, J. B., Motola, D. L., Mangelsdorf, D. J. & Russell, D. W. (2003) J. Biol. Chem. 278, 38084-38093.
3. Gupta, R. P., Hollis, B. W., Patel, S. B., Patrick, K. S. & Bell, N. H. (2004) J. Bone Miner. Res. 19, 680-688.
4. Yamasaki, T., Izumi, S., Ide, H. & Ohyama, Y. (March 16, 2004) J. Biol. Chem., 10.1074/jbc.M312601200.
5. Skrede, S., Bjorkhem, I., Kvittingen, E. A., Buchmann, M. S., Lie, S. O., East, C. & Grundy, S. (1986) J. Clin. Invest. 78, 729-735.
6. Cali, J. J., Hsieh, C., Francke, U. & Russell, D. W. (1991) J. Biol. Chem. 266, 7779-7783.
7. Bjorkhem, I., Boberg, K. M. & Leitersdorf, E. (2001) in The Metabolic and Molecular Bases of Inherited Disease, eds. Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W. & Vogelstein, B. (McGraw-Hill, New York), Vol. 2, pp. 2961-2988.
8. Rosen, H., Reshef, A., Maeda, N., Lippoldt, A., Shpizen, S., Triger, L., Eggertsen, G., Bjorkhem, I. & Leitersdorf, E. (1998) J. Biol. Chem. 273, 14805-14812.
9. Repa, J. J., Lund, E. G., Horton, J. D., Leitersdorf, E., Russell, D. W., Dietschy, J. M. & Turley, S. D. (2000) J. Biol. Chem. 275, 39685-39692.
10. Takeyama, K., Kitanaka, S., Sato, T., Kobori, M., Yanagisawa, J. & Kato, S. (1997) Science 277, 1827-1830.
11. Zhang, M. Y., Wang, X., Wang, J. T., Compagnone, N. A., Mellon, S. H., Olson, J. L., Tenehouse, H. S., Miller, W. M. & Portale, A. A. (2002) Endocrinology 143, 587-595.
12. Zehnder, D., Bland, R., Walker, E. A., Bradwell, A. R., Howie, A. J., Hewison, M. & Stewart, P. M. (1999) J. Am. Soc. Nephrol. 10, 2465-2473.
13. Nykjaer, A., Dragnun, D., Walther, D., Vorum, H., Jacobsen, C., Herz, J., Melsen, F., Christensen, E. I. & Willnow, T. E. (1999) Cell 96, 507-515.
14. Kitanaka, S., Takeyama, K., Murayama, A., Sato, T., Okamura, K., Nogami, M., Hasegawa, Y., Niimi, H., Yanagisawa, J., Tanaka, T. & Kato, S. (1998) N. Engl. J. Med. 338, 681-682.
15. Kato, S. (2001) Endocrinology 142, 2734-2735.
16. Liberman, U. A. & Marx, S. J. (2001) in The Metabolic and Molecular Bases of Inherited Disease, eds. Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W. & Vogelstein, B. (McGraw-Hill, New York), Vol. 3, pp. 4223-4240.
17. Casella, S. J., Reiner, B. J., Chen, T. C., Holick, M. F. & Harrison, H. E. (1994) J. Pediatr. 124, 929-932.
18. Zerwekh, J. E., Glass, K., Jowsey, J. & Pak, C. Y. (1979) J. Clin. Endocrinol. Metab. 49, 171-175.
19. Sambrook, J. & Russell, D. W. (2001) Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Lab. Press, Plainview, NY).
20. Leitersdorf, E., Reshef, A., Meiner, V., Levitzki, R., Schwartz, S. P., Dann, E. J., Berkman, N., Cali, J. J., Klapholz, L. & Berginer, V. M. (1993) J. Clin. Invest. 91, 2488-2496.
21. Mooser, V., Scheer, D., Marcovina, S. M., Wang, J., Guerra, R., Cohen, J. & Hobbs, H. H. (1997) Am. J. Hum. Genet. 61, 402-417.
22. Cooper, R. S., Luke, A., Zhu, X., Kan, D., Adeyemo, A., Rotimi, C., Bouzekri, N., Ward, R. & Rorimi, C. (2002) Hypertension 40, 629-633.
23. Holmberg, I., Berlin, T., Ewerth, S. & Bjorkhem, I. (1986) Scand. J. Clin. Lab. Invest. 46, 785-790.
24. Guo, Y.-D., Strugnell, S. A., Back, D. W. & Jones, G. (1993) Proc. Natl. Acad. Sci. USA 90, 8668-8672.
25. Bhattacharyya, M. H. & DeLuca, H. F. (1974) Arch. Biochem. Biophys. 160, 58-62.
26. Bjorkhem, I. & Holmberg, I. (1978) J. Biol. Chem. 253, 842-849.
27. Madhok, T. C. & DeLuca, H. F. (1979) Biochem. J. 184, 491-499.
28. Fukushima, M., Susuki, Y., Tohira, Y., Nishi, Y., Susuki, M., Sasaki, S. & Suda, T. (1976) FEBS Lett. 65, 211-214.
29. Bjorkhem, I., Holmberg, I., Oftebro, H. & Pedersen, J. I. (1980) J. Biol. Chem. 255, 5244-5249.
30. Wikvall, K. (1984) J. Biol. Chem. 259, 3800-3804.
31. Dahlback, H. & Wikvall, K. (1988) Biochem. J. 252, 207-213.
32. Andersson, S., Davis, D. L., Dahlback, H., Jornvall, H. & Russell, D. W. (1989) J. Biol. Chem. 264, 8222-8229.
33. Russell, D. W. (2003) Annu. Rev. Biochem. 72, 137-174.
34. Hosseinpour, F. & Wikvall, K. (2000) J. Biol. Chem. 275, 34650-34655.
35. Lin, C. J., Wijesuriya, S. D., Abdullah, M. A., Casella, S. J. & Miller, W. L. (2003) Mol. Genet. Metab. 80, 469-472.
36. Andersson, S., Holmberg, I. & Wikvall, K. (1983) J. Biol. Chem. 258, 6777-6781.
37. Kitanaka, S., Takeyama, K., Murayama, A. & Kato, S. (2001) Endocr. J. 48, 427-432.
38. Asami, T., Kawasaki, T. & Uchiyama, M. (1995) Acta Paediatr. Jpn. 37, 182-188.
39. Nutzenadel, W., Mehls, O. & Klaus, G. (1995) J. Pediatr. 126, 676-677.
40. Abdullah, M. A., Salhi, H. S., Bakry, L. A., Okamoto, E., Abomelha, A. M., Stevens, B. & Mousa, F. M. (2002) J. Pediatr. Endocrinol. Metab. 15, 1017-1025.
41. Griffin, J. E. & Zerwekh, J. E. (1983) J. Clin. Invest. 72, 1190-1199.
42. Whitfield, G. K., Selznick, S. H., Haussler, C. A., Hsieh, J.-C., Galligan, M. A., Jurutka, P. W., Thompson, P. D., Lee, S. M., Zerwekh, J. E. & Haussler, M. R. (1996) Mol. Endocrinol. 10, 1617-1631.
43. Bell, N. H., Greene, A., Epstein, S., Oexmann, M. J., Shaw, S. & Shary, J. (1985) J. Clin. Invest. 76, 470-473.
44. Norman, A. W. (1998) Am. J. Clin. Nutr. 67, 1108-1110.
45. Kreiter, S. R., Schwartz, R. P., Kirkman, H. N., Charlton, P. A., Calikoglu, A. S. & Davenport, M. L. (2000) J. Pediatr. 137, 153-157.
46. Nesby-O'Dell, S., Scanlon, K. S., Cogswell, M. E., Gillespie, C., Hollis, B. W., Looker, A. C., Allen, C., Doughertly, C., Gunter, E. W. & Bowman, B. A. (2002) Am. J. Clin. Nutr. 76, 187-192.
47. Thacher, T. D., Fischer, P. R., Pettifor, J. M., Lawson, J. O., Isichei, C. O. & Chan, G. M. (2000) J. Pediatr. 137, 367-373.