Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease

Journal of Biological Chemistry

Volumn 280, Issue 49, 2005, Pages 41101-41110

  McDonough, Michael A ^a   Kavanagh, Kathryn L ^b   Butler, Danica ^a   Searls, Timothy ^a   Oppermann, Udo ^b   Schofield, Christopher J ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CRYSTALLOGRAPHY; DEGRADATION; DISEASES; OXIDATION; PATIENT MONITORING;

CYSTEINE RESIDUES; MUTATIONS; REFSUM DISEASE (RD);

HUMAN ENGINEERING;

2 OXOGLUTARIC ACID; ARGININE; ASPARAGINE; ASPARTIC ACID; CYSTEINE; FERROUS ION; GLUTAMIC ACID; GLUTAMINE; GLYCINE; HISTIDINE; HYPOXIA INDUCIBLE FACTOR 1; ISOLEUCINE; OXYGENASE; PHYTANIC ACID; PHYTANOYL COENZYME A 2 HYDROXYLASE; PROLINE; TRYPTOPHAN; UNCLASSIFIED DRUG;

ANOSMIA; ARTICLE; BETA CHAIN; BINDING SITE; CATALYSIS; ENZYME ACTIVE SITE; ENZYME BINDING; GENE MUTATION; HUMAN; NONHUMAN; OXIDATION; PEROXISOME; PRIORITY JOURNAL; REFSUM DISEASE; RETINITIS PIGMENTOSA; SENSORY NEUROPATHY; X RAY CRYSTALLOGRAPHY;

ASPARTIC ACID; BINDING SITES; COENZYME A; CRYSTALLIZATION; CRYSTALLOGRAPHY, X-RAY; CYSTEINE; ESCHERICHIA COLI; FERROUS COMPOUNDS; HISTIDINE; HUMANS; KETOGLUTARIC ACIDS; MIXED FUNCTION OXYGENASES; MODELS, MOLECULAR; MUTATION; PEROXISOMES; PHYTANIC ACID; PROTEIN BINDING; PROTEIN STRUCTURE, SECONDARY; RECOMBINANT PROTEINS; REFSUM DISEASE; STRUCTURE-ACTIVITY RELATIONSHIP; TRANSFECTION;

EID: 28844469201     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M507528200     Document Type: Article

References (68)

1. Steinberg, D. (1995) in The Metabolic and Molecular Bases of Inherited Disease (Valle, D., ed) 7th Ed., pp. 2351-2369, McGraw-Hill Inc., New York
2. Wanders, R. J. A., Jakobs, C., and Skjeldal, O. H. (2001) in The Metabolic and Molecular Bases of Inherited Disease (Valle, D., ed) Vol. 2, 8th Ed., pp. 3303-3321, McGraw-Hill Inc., New York
3. Wierzbicki, A. S., Lloyd, M. D., Schofield, C. J., Feher, M. D., and Gibberd, F. B. (2002) J. Neurochem. 80, 725-735
4. Mukherji, M., Schofield, C. J., Wierzbicki, A. S., Jansen, G. A., Wanders, R. J., and Lloyd, M. D. (2003) Prog. Lipid Res. 42, 359-376
5. Jansen, G. A., Ofman, R., Ferdinandusse, S., Ijlst, L., Muisers, A. O., Skjeldal, O. H., Stokke, O., Jakobs, C., Besley, G. T. N., Wraith, J. E., and Wanders, R. J. A. (1997) Nat. Genet. 17, 190-193
6. Mihalik, S. J., Morcell, J. C., Kim, D., Stackster, K. A., Watkins, P. A., and Gould, S. J. (1997) in Nat. Genet. 17, 185-189
7. van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G. A., Waterham, H. R., and Wanders, R. J. (2003) Am. J. Hum. Genet. 72, 471-477
8. Jansen, G. A., Waterham, H. R., and Wanders, R. J. A. (2004) Hum. Mutat. 23, 209-218
9. Gibberd, F. B., and Wierzbicki, A. S. (2000) in Handbook of Ataxia Disorders (Klockgether, T. V., ed) pp. 235-256, Marcel Dekker Inc., New York
10. Plant, G. R., Hansell, D. M., Gibberd, F. B., and Sidey, M. C. (1990) Br. J. Radiol. 63, 537-541
11. Chambraud, B., Radanyi, C., Camonis, J. H., Rajkowski, K., Schumacher, M., and Baulieu, E.-E. (1999) Proc. Natl. Acad. Sci. U. S. A. 96, 2104-2109
12. Chen, C., Q., W., Fang, X. D., Xu, Q., Chi, C. W., and Gu, J. X. (2001) J. Biol. Chem. 276, 46340-46346
13. Lee, Z. H., Kim, H., Ahn, K. Y., Seo, K. H., Kim, J. K., Bae, C. S., and Kim, K. K. (2000) in Brain Res. Mol. Brain Res. 75, 237-247
14. Koh, J. T., Lee, Z. H., Ahn, K. Y., Kim, J. K., Bae, C. S., Kim, H. H., Kee, H. J., and Kim, K. K. (2001) Brain Res. Mol. Brain Res. 87, 223-237
15. van den Brink, D. M., Van Miert, J. N. I., Decremont, G., Rontani, J.-F., and Wanders, R. J. (2005) J. Biol. Chem. 280, 26838-26844
16. Prescott, A. G., and Lloyd, M. D. (2000) Nat. Prod. Rep. 17, 367-383
17. Mihalik, S. J., Rainville, A. M., and Watkins, P. A. (1995) Eur. J. Biochem. 232, 545-551
18. Croes, K., Casteels, M., Dieuaide-Noubham, M., Mannaerts, G. P., and van Veldhoven, P. P. (1999) J. Lipid Res. 40, 601-609
19. Kershaw, N. J., Mukherji, M., MacKinnon, C. H., Claridge, T. D. W., Odell, B., Wierzbicki, A. S., Lloyd, M. D., and Schofield, C. J. (eds) (2001) Bioorg. Med. Chem. Lett. 11, 2545-2548
20. Jansen, G. A., Verhoeven, N. M., Denis, S., Romeijin, G. J., Jakobs, C., ten Brink, H. J., and Wanders, R. J. A. (1999) Biochim. Biophys. Acta 1440, 176-182
21. Foulon, V., Antonenkov, V. D., Croes, K., Waelkens, E., Mannaerts, G. P., van Veldhoven, P. P., and Casteels, M. (1999) Proc. Natl. Acad. Sci. U. S. A. 96, 10039-10044
22. Croes, K., van Veldhoven, P. P., Mannaerts, G. P., and Casteels, M. (1997) FEBS Lett. 407, 197-200
23. van Veldhoven, P. P., Schor, D. S. M., ten Brink, H. J., Wanders, R. J. A., and Jakobs, C. (1997) Biochem. Biophys. Res. Commun. 327, 33-36
24. Steinberg, S. J., Wang, S. J., Kim, D. G., Mihalik, S. J., and Watkins, P. A. (1999) in Biochem. Biophys. Res. Commun. 2257, 615-621
25. Schmitz, W., Fingerhut, R., and Conzelmann, E. (1994) Eur. J. Biochem. 222, 313-323
26. Schmitz, W., Albers, C., Fingerhut, R., and Conzelmann, E. (1995) Eur. J. Biochem. 231, 815-822
27. Searls, T., Butler, D., Chien, W., Mukherji, M., Lloyd, M. D., and Schofield, C. J. (2005) J. Lipid Res., 46, 1660-1667
28. Mukherji, M., Kershaw, N. J., Schofield, C. J., Wierzbicki, A. S., and Lloyd, M. D. (2002) Chem. Biol. 9, 597-605
29. Mukherji, M., Chien, W., Kershaw, N. J., Clifton, I. J., Schofield, C. J., Wierzbicki, A. S., and Lloyd, M. D. (2001) in Hum. Mol. Genet. 10, 1971-1982
30. Valegard, K., Terwisscha van Scheltinga, A. C., Lloyd, M. D., Hara, T., Ramaswamy, S., Perrakis, A., Thompson, A., Lee, H.-J., Baldwin, J. E., Schofield, C. J., Haidu, J., and Andersson, I. (1998) Nature 394, 805-809
31. Elkins, J. M., Hewitson, K. S., McNeil, L. A., Seibel, J. F., Schlemminger, I., Pugh, C. W., Ratcliffe, P. J., and Schofield, C. J. (2003) J. Biol. Chem. 278, 1802-1806
32. Lee, H.-J., Lloyd, M. D., Harlos, K., and Schofield, C. J. (2000) Biochem. Biophys. Res. Commun. 267, 445-448
33. Walter, T. S., Diprose, J., Brown, J., Pickford, M., Owens, R. J., Stuart, D. I., and Harlos, K. (2003) J. Appl. Crystallogr. 36, 308-314
34. Cianci, M., Antonyuk, S., Bliss, N., Bailey, M. W., Buffey, S. G., Cheung, K. C., Clarke, J. A., Derbyshire, G. E., Ellis, M. J., Enderby, M. J., Grant, A. F., Holbourn, M. P., Laundy, D., Nave, C., Ryder, R., Stephenson, P., Helliwell, J. R., and Hasnain, S. S. (2005) J. Synchrotron Radiat. 12, 455-466
35. Collaborative Computational Project 4 (1994) Acta Crystallogr. Sect. D Biol. Crystallogr. 50, 760-763
36. Leslie, A. G. W. (1992) Joint CCP4 and ESF-EAMCB Newsletter on Protein Crystallography 26
37. Otwinowski, Z., and Minor, W. (1997) Methods Enzymol. 276, 307-326
38. Bruker, A. (ed) (2003) XPREP: Data Preparation and Reciprocal Space Exploration, Version 6.14/UNIX, Bruker Nonius, Madison, WI
39. Sheldrick, G. M., and Schneider, T. R. (1997) in Methods Enzymol. 277, 319-343
40. delaFortelle, E., and Bricogne, G. (1997) Methods Enzymol. 276, 472-494
41. Terwilliger, T. (2000) Acta Crystallogr. Sect. D Biol. Crystallogr. 56, 965-972
42. Emsley, P., and Cowtan, K. (2004) Acta Crystallogr. Sect. D Biol. Crystallogr. 60, 2126-2132
43. Murshudov, G. N., Vagin, A. A., and Dodson, E. J. (1997) Acta Crystallogr. D Biol. Crystallogr. 53, 240-255
44. Elkins, J. M., Ryle, M. J., Clifton, I. J., Hotopp, I. C. D., Lloyd, M. D., Burzlaff, N. I., Baldwin, J. E., Hausinger, R. P., and Roach, P. L. (2002) Biochemistry 41, 5185-5192
45. Muralidharan, F. N., and Muralidharan, V. B. (1985) Biochim. Biophys. Acta 835, 36-40
46. Zhang, Z.-H., Ren. J. S., Stammers, D. K., Baldwin, J. E., Harlos, K., and Schofield, C. J. (2000) Nat. Struct. Biol. 7, 127-133
47. Wilmouth, R. C., Turnbull, J. J., Welford, R. W. D., Clifton, I. J., Prescott, A. G., and Schofield, C. J. (2002) Structure 10, 93-103
48. Clifton, I. J., Hsueh, L.-C., Baldwin, J. E., Harlos, K., and Schofield, C. J. (2001) Eur. J. Biochem. 268, 6625-6636
49. Chance, M. R., Bresnick, A. R., Burley, S. K., Jiang, J. S., Lima, C. D., Sali, A., Almo, S. C., Bonanno, J. B., Buglino, J. A., Boulton, S., Chen, H., Eswar, N., He, G., Huang, R., Ilyin, V., McMahan, L., Pieper, U., Ray, S., Vidal, M., and Wang, L. K. (2002) Protein Sci. 11, 723-738
50. Zhang, Z., Ren, J., Harlos, K., McKinnon, C. H., Clifton, I. J., and Schofield, C. J. (2002) FEBS Lett. 517, 7-12
51. Zhou, J., Kelly, W. L., Bachmann, B. O., Gunsior, M., Townsend, C. A., and Solomon, E. I. (2001) in J. Am. Chem. Soc. 123, 7388-7398
52. Altschul, S. F., Madden, T. L., Schèaffer, A. A., Zhang, J., Zhang, Z., Miller, W., and Lipman, D. J. (1997) Nucleic Acids Res. 25, 3389-3402
53. Nāuänez, L. E., Mâendez, C., Braäna, A. F., Blanco, G., and Salas, J. A. (2003) Chem. Biol. 10, 301-311
54. Sleeman, M. C., and Schofield, C. J. (2004) J. Biol. Chem. 279, 6730-6736
55. Jansen, G. A., Mihalik, S. J., Watkins, P. A., Jakobs, C., Moser, H. W., and Wanders, R. J. (1998) Clin. Chim. Acta. 271, 203-211
56. Lee, H. J., Lloyd, M. D., Harlos, K., Clifton, I. J., Baldwin, J. E., and Schofield, C. J. (2001) J. Mol. Biol. 308, 937-948
57. Lancaster, D. E., McNeill, L. A., McDonough, M. A., Aplin, R. T., Hewitson, K. S., Pugh, C. W., Ratcliffe, P. J., and Schofield, C. J. (2004) Biochem. J. 383, 429-437
58. Jansen, G. A., Hogenhout, E. M., Ferdinandusse, S., Waterham, H. R., Ofman, R., Jakobs, C., Skjeldal, O. H., and Wanders, R. J. A. (2000) Hum. Mol. Genet. 9, 1195-2000
59. Perdue, P. E., and Lazarow, P. B. (2001) Annu. Rev. Cell Dev. Biol. 17, 701-752
60. Mukherji, M., Kershaw, N. J., MacKianon, C. H., Clifton, I. J., Schofield, C. J., Wierzbicki, A. S., and Lloyd, M. D. (2001) Chem. Commun. 11, 972-973
61. Seedorf, U., Raabe, M., Ellinghaus, P., Kannenberg, F., Fobker, M., Engel, T., Denis, S., Wouters, F., Wirtz, K. W., Wanders, R. J., Maeda, N., and Assman, G. (1998) Gen. Dev. 12, 1189-1201
62. Seedorf, U., Ellinghaus, P., and Nofer, J. R. (2000) in Biochim. Biophys. Acta 1486, 45-54
63. Wouters, F. S., Bastiaens, P. I. H., Wirtz, K. W. A., and Jovin, T. M. (1998) EMBO J. 17, 7179-7189
64. Hewitson, K. S., and Schofield, C. J. (2004) Drug Discov. Today 9, 704-711
65. Mole, D. R., Schlemminger, I., McNeill, L. A., Hewitson, K. S., Pugh, C. W., Ratcliffe, P. J., and Schofield, C. J. (2003) Bioorg. Med. Chem. Lett. 13, 2677-2680
66. McDonough, M. A., McNeill, L. A., Tilliet, M., Papamicael, C. A., Chen, Q. Y., Banerji, B., Hewitson, K. S., and Schofield, C. J. (2005) in J. Am. Chem. Soc. 127, 7680-7681
67. Wanders, R. J., Jansen, G. A., and Lloyd, M. D. (2003) Biochim. Biophys. Acta 1631, 119-135
68. Sanders, R. J., Ofman, R., Valianpour, F., Kemp, S., and Wanders, R. J. (2005) J. Lipid Res. 46, 1001-1008