CYP7B1: One cytochrome P450, two human genetic diseases, and multiple physiological functions

Journal of Biological Chemistry

Volumn 284, Issue 42, 2009, Pages 28485-28489

  Stiles, Ashlee R ^a   McDonald, Jeffrey G ^a   Bauman, David R ^a   Russell, David W ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

BILE SALTS; BIOLOGICAL ACTIVITIES; CYTOCHROME P450; END-PRODUCTS; HUMAN GENES; HUMAN GENETIC DISEASE; LIVER FAILURE; OXYSTEROLS; PHYSIOLOGICAL FUNCTIONS;

ENZYMES; LIVER; SALTS;

HYDROXYLATION;

ANDROGEN; BILE SALT; CARBON; CYTOCHROME P450; CYTOCHROME P450 7B1; ESTROGEN; ESTROGEN RECEPTOR; IMMUNOGLOBULIN; LIGAND; MESSENGER RNA; OXYSTEROL; STEROID HORMONE; UNCLASSIFIED DRUG;

BRAIN; ENZYME ACTIVITY; EXCRETION; GENE MUTATION; GENETIC DISORDER; GENITAL SYSTEM; HORMONE ACTION; HORMONE METABOLISM; HUMAN; HYDROXYLATION; LIVER; LIVER FAILURE; NEUROPATHY; NONHUMAN; OVARY DISEASE; PARAPLEGIA; PATHOGENESIS; PRIORITY JOURNAL; PROSTATE DISEASE; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SHORT SURVEY; SPASTIC PARAPLEGIA TYPE 5; TISSUE DISTRIBUTION;

ANIMALS; ASPERGILLUS NIGER; CHILD; HUMANS; IMMUNOGLOBULINS; LIGANDS; LIVER FAILURE; MICE; MODELS, CHEMICAL; NERVOUS SYSTEM DISEASES; RATS; RNA, MESSENGER; STEROID HYDROXYLASES; STEROIDS;

MUS;

EID: 70350417597     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.R109.042168     Document Type: Short Survey

References (39)

1. Stapleton, G., Steel, M., Richardson, M., Mason, J. O., Rose, K. A., Morris, R. G., and Lathe, R. (1995) J. Biol. Chem. 270, 29739-29745
2. Russell, D. W. (2003) Annu. Rev. Biochem. 72, 137-174
3. Rose, K. A., Stapleton, G., Dott, K., Kieny, M. P., Best, R., Schwarz, M., Russell, D. W., Björkhem, I., Seckl, J., and Lathe, R. (1997) Proc. Natl. Acad. Sci. U.S.A. 94, 4925-4930
4. Schwarz, M., Lund, E. G., Lathe, R., Björkhem, I., and Russell, D. W. (1997) J. Biol. Chem. 272, 23995-24001
5. Martin, K. O., Reiss, A. B., Lathe, R., and Javitt, N. B. (1997) J. Lipid Res. 38, 1053-1058
6. Wu, Z., Martin, K. O., Javitt, N. B., and Chiang, J. Y. (1999) J. Lipid Res. 40, 2195-2203
7. Rose, K., Allan, A., Gauldie, S., Stapleton, G., Dobbie, L., Dott, K., Martin, C., Wang, L., Hedlund, E., Seckl, J. R., Gustafsson, J. A., and Lathe, R. (2001) J. Biol. Chem. 276, 23937-23944
8. Li-Hawkins, J., Lund, E. G., Turley, S. D., and Russell, D. W. (2000) J. Biol. Chem. 275, 16536-16542
9. Russell, D. W. (2009) J. Lipid Res. 50, S120-S125
10. Danielsson, H., Einarsson, K., and Johansson, G. (1967) Eur. J. Biochem. 2, 44-49
11. Toll, A., Wikvall, K., Sudjana-Sugiaman, E., Kondo, K. H., and Björkhem, I. (1994) Eur. J. Biochem. 224, 309-316
12. Schwarz, M., Lund, E. G., Setchell, K. D., Kayden, H. J., Zerwekh, J. E., Björkhem, I., Herz, J., and Russell, D. W. (1996) J. Biol. Chem. 271, 18024-18031
13. Ishibashi, S., Schwarz, M., Frykman, P. K., Herz, J., and Russell, D. W. (1996) J. Biol. Chem. 271, 18017-18023
14. Schwarz, M., Russell, D. W., Dietschy, J. M., and Turley, S. D. (2001) J. Lipid Res. 42, 1594-1603
15. Li-Hawkins, J., Lund, E. G., Bronson, A. D., and Russell, D. W. (2000) J. Biol. Chem. 275, 16543-16549
16. Baulieu, E. E., Robel, P., and Schumacher, M. (2001) Int. Rev. Neurobiol. 46, 1-32
17. Kuiper, G. G., Carlsson, B., Grandien, K., Enmark, E., Häggblad, J., Nilsson, S., and Gustafsson, J. A. (1997) Endocrinology 138, 863-870
18. Sundin, M., Warner, M., Haaparanta, T., and Gustafsson, J. A. (1987) J. Biol. Chem. 262, 12293-12297
19. Weihua, Z., Lathe, R., Warner, M., and Gustafsson, J. A. (2002) Proc. Natl. Acad. Sci. U.S.A. 99, 13589-13594
20. Omoto, Y., Lathe, R., Warner, M., and Gustafsson, J. A. (2005) Proc. Natl. Acad. Sci. U.S.A. 102, 2814-2819
21. Umetani, M., Domoto, H., Gormley, A. K., Yuhanna, I. S., Cummins, C. L., Javitt, N. B., Korach, K. S., Shaul, P. W., and Mangelsdorf, D. J. (2007) Nat. Med. 13, 1185-1192
22. DuSell, C. D., Umetani, M., Shaul, P. W., Mangelsdorf, D. J., and Mc-Donnell, D. P. (2008) Mol. Endocrinol. 22, 65-77
23. Martin, C., Ross, M., Chapman, K. E., Andrew, R., Bollina, P., Seckl, J. R., and Habib, F. K. (2004) J. Clin. Endocrinol. Metab. 89, 2928-2935
24. Pettersson, H., Holmberg, L., Axelson, M., and Norlin, M. (2008) FEBS J. 275, 1778-1789
25. Diczfalusy, U., Olofsson, K. E., Carlsson, A. M., Gong, M., Golenbock, D. T., Rooyackers, O., Fläring, U., and Björkbacka, H. (2009) J. Lipid Res. 50, in press
26. Bauman, D. R., Bitmansour, A. D., McDonald, J. G., Thompson, B. M., and Russell, D. W. (2009) Proc. Natl. Acad. Sci. U.S.A. 106, in press
27. Dulos, J., van der Vleuten, M. A., Kavelaars, A., Heijnen, C. J., and Boots, A. M. (2005) Arthritis Rheum. 52, 770-778
28. Stoilov, I., Krueger, W., Mankowski, D., Guernsey, L., Kaur, A., Glynn, J., and Thrall, R. S. (2006) Arch. Biochem. Biophys. 456, 30-38
29. Setchell, K. D., Schwarz, M., O'Connell, N. C., Lund, E. G., Davis, D. L., Lathe, R., Thompson, H. R., Weslie Tyson, R., Sokol, R. J., and Russell, D. W. (1998) J. Clin. Invest. 102, 1690-1703
30. Ueki, I., Kimura, A., Nishiyori, A., Chen, H. L., Takei, H., Nittono, H., and Kurosawa, T. (2008) J. Pediatr. Gastroenterol. Nutr. 46, 465-469
31. Tsaousidou, M. K., Ouahchi, K., Warner, T. T., Yang, Y., Simpson, M. A., Laing, N. G., Wilkinson, P. A., Madrid, R. E., Patel, H., Hentati, F., Patton, M. A., Hentati, A., Lamont, P. J., Siddique, T., and Crosby, A. H. (2008) Am. J. Hum. Genet. 82, 510-515
32. Biancheri, R., Ciccolella, M., Rossi, A., Tessa, A., Cassandrini, D., Minetti, C., and Santorelli, F. M. (2009) Neuromuscul. Disord. 19, 62-65
33. Schüle, R., Brandt, E., Karle, K. N., Tsaousidou, M., Klebe, S., Klimpe, S., Auer-Grumbach, M., Crosby, A. H., Hübner, C. A., Schöls, L., Deufel, T., and Beetz, C. (2009) Neurogenetics 10, 97-104
34. Goizet, C., Boukhris, A., Durr, A., Beetz, C., Truchetto, J., Tesson, C., Tsaousidou, M., Forlani, S., Guyant-Maréchal, L., Fontaine, B., Guimarães, J., Isidor, B., Chazouillères, O., Wendum, D., Grid, D., Chevy, F., Chinnery, P. F., Coutinho, P., Azulay, J. P., Feki, I., Mochel, F., Wolf, C., Mhiri, C., Crosby, A., Brice, A., and Stevanin, G. (2009) Brain 132, 1589-1600
35. Criscuolo, C., Filla, A., Coppola, G., Rinaldi, C., Carbone, R., Pinto, S., Wang, Q., de Leva, M. F., Salvatore, E., Banfi, S., Brunetti, A., Quarantelli, M., Geschwind, D. H., Pappatà, S., and De Michele, G. (2009) J. Neurol. 256, in press
36. Salinas, S., Proukakis, C., Crosby, A., and Warner, T. T. (2008) Lancet Neurol. 7, 1127-1138
37. Clayton, P. T., Verrips, A., Sistermans, E., Mann, A., Mieli-Vergani, G., and Wevers, R. (2002) J. Inherit. Metab. Dis. 25, 501-513
38. Pierre, G., Setchell, K., Blyth, J., Preece, M. A., Chakrapani, A., and Mc-Kiernan, P. (2009) J. Inherit. Metab. Dis. 32, in press
39. Björkhem, I., Boberg, K. M., and Leitersdorf, E. (2001) in The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds) 8th Ed., McGraw-Hill Book Co., New York