Mutagenesis of putative serine-threonine phosphorylation sites proximal to Arg255 of human cytochrome P450c17 does not selectively promote its 17,20-lyase activity

Fertility and Sterility

Volumn 85, Issue SUPPL. 1, 2006, Pages 1290-1299

  Souter, Irene ^a,c   Munir, Iqbal ^a   Mallick, Parag ^b   Weitsman, Stacy R ^a   Geller, David H ^a   Magoffin, Denis A ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b BURNS AND ALLEN RESEARCH INSTITUTE   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

17 hydroxylase; androgen production; C17 20 lyase; P450c17

Indexed keywords

ALANINE; ARGININE; ASPARTIC ACID; CYTOCHROME P450C17; DNA; EPITOPE; MUTANT PROTEIN; SERINE; STEROID 17,20 LYASE; STEROID 17ALPHA MONOOXYGENASE; THREONINE;

AMINO TERMINAL SEQUENCE; ANIMAL CELL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL CULTURE; CHROMOSOME; CONTROLLED STUDY; ENZYME ACTIVATION; ENZYME ACTIVITY; ENZYME MECHANISM; ENZYME REGULATION; LABORATORY; MEASUREMENT; NONHUMAN; OXIDATION REDUCTION REACTION; PHYSIOLOGY; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN ISOLATION; PROTEIN PHOSPHORYLATION; SITE DIRECTED MUTAGENESIS; UNIVERSITY HOSPITAL; WILD TYPE;

AMINO ACIDS; ANIMALS; BINDING SITES; CERCOPITHECUS AETHIOPS; COMPUTER SIMULATION; COS CELLS; ENZYME ACTIVATION; HUMANS; MODELS, CHEMICAL; MODELS, MOLECULAR; MUTAGENESIS, SITE-DIRECTED; PROTEIN BINDING; RECOMBINANT PROTEINS; STEROID 17-ALPHA-HYDROXYLASE;

EID: 33645843055     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2005.12.011     Document Type: Article

References (63)

1. Fan Y.S., Sasi R., Lee C., Winter J.S., Waterman M.R., and Lin C.C. Localization of the human CYP17 gene (cytochrome P450(17)) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding. Genomics 14 (1992) 1110-1111
2. Fluck C.E., and Miller W.L. GATA-4 and GATA-6 modulate tissue-specific transcription of the human gene for P450c17 by direct interaction with SP1. Mol Endocrinol 18 (2004) 1144-1157
3. Matteson K.J., Picado-Leonard J., Chung B.C., Mohandas T.K., and Miller W.L. Assignment of the gene for adrenal P450c17 (steroid 17-hydroxylase/17,20 lyase) to human chromosome 10. J Clin Endocrinol Metab 63 (1986) 789-791
4. Picado-Leonard J., and Miller W.L. Cloning and sequence of the human gene for P450c17 (steroid 17-hydroxylase/17,20 lyase). similarity with the gene for P450c21. DNA 6 (1987) 439-448
5. Sparkes R.S., Klisak I., and Miller W.L. Regional mapping of genes encoding human steroidogenic enzymes. P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24-q25. DNA Cell Biol 10 (1991) 359-365
6. Chung B., Picado-Leonard J., Haniu M., Bienkowski M., Hall P.F., Shively J.E., et al. Cytochrome P450c17 (steroid 17a-hydroxylase/17,20 lyase). cloning of the human adrenal and testis cDNAs indicates the same gene is expressed in both tissues. Proc Natl Acad Sci USA 84 (1987) 407-411
7. Nakajin S., Shively J.E., Yuan P., and Hall P.F. Microsomal cytochrome P450 from neonatal pig testis. two enzymatic activities (17α-hydroxylase and C17, 20 lyase) associated with one protein. Biochemistry 20 (1981) 4037-4042
8. Nakajin S., Shinoda M., Haniu M., Shively J.E., and Hall P.F. C21 steroid sice-chain cleavage enzyme from porcine adrenal microsomes. Purification and characterization of the 17α-hydroxylase/C17,20 lyase cytochrome P450. J Biol Chem 259 (1984) 3971-3976
9. Zuber M.X., John M.E., Okamura T., Simpson E.R., and Waterman M.R. Bovine adrenocortical cytochrome P-450 (17 alpha). Regulation of gene expression by ACTH and elucidation of primary sequence. J Biol Chem 261 (1986) 2475-2482
10. Zuber M.X., Simpson E.R., and Waterman M.R. Expression of bovine 17α-hydroxylase cytochrome P450cDNA in non steroidogenic (COS-1) cells. Science 234 (1986) 1258-1261
11. Miller W.L. Androgen biosynthesis from cholesterol to DHEA. Mol Cell Endocrinol 198 (2002) 7-14
12. Brentano S.T., Picado-Leonard J., Mellon S.H., Moore C.C.D., and Miller W.L. Tissue-specific, cyclic adenosine 3′,5′-monophosphate-induced, and phorbol ester repressed transcription from the human P450c17 promoter in mouse cells. Mol Endocrinol 4 (1990) 1972-1979
13. DiBlasio A.M., Voutilainen R., Jaffe R.B., and Miller W.L. Hormonal regulation of mRNA for P450scc (cholesterol side chain cleavage enzyme) and P450c17 (17-hydroxylase/17,20 lyase) in cultured human fetal adrenal cells. J Clin Endocrinol Metab 65 (1987) 170-175
14. Lin C.J., Martens J.W.M., and Miller W.L. NF-1C, Sp1, and Sp3 are essential for transcription of the human gene for P450c17 (steroid 17-hydroxylase/17,20 lyase) in human adrenal NCI-H295A cells. Mol Endocrinol 15 (2001) 1277-1293
15. Rodriguez H., Hum D.W., Staels B., and Miller W.L. Transcription of the human genes for cytochrome P450scc and P450c17 is regulated differently in human adrenal NCI-H295 cells than in mouse adrenal Y1 cells. J Clin Endocrinol Metab 82 (1997) 365-371
16. Voutilainen R., Tapanainen J., Chung B.C., Matteson K.J., and Miller W.L. Hormonal regulation of P450scc (20,22-desmolase) and P450c17 (17-hydroxylase/17,20-lyase) in cultured human granulosa cells. J Clin Endocrinol Metab 63 (1986) 202-207
17. Voutilainen R., and Miller W.L. Developmental expression of genes for the steroidogenic enzymes P450scc (20,22-desmolase), P450c17 (17-hydroxylase/17,20-lyase), and P450c21 (21-hydroxylase) in the human fetus. J Clin Endocrinol Metab 63 (1986) 1145-1150
18. Fluck C.E., Tajima T., Pandey A.V., Arlt W., Okuhara K., Verge C.F., et al. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet 36 (2004) 228-230
19. Shen A.L., and Kasper C.B. Differential contributions of NADPH-cytochrome P450 oxidoreductase FAD binding site residues to flavin binding and catalysis. J Biol Chem 275 (2000) 41087-41091
20. Yanagibashi K., and Hall P.F. Role of electron transport in the regulation of the lyase activity of C-21 side-chain cleavage P450 from porcine adrenal and testicular microsomes. J Biol Chem 261 (1986) 8429-8433
21. 106 and P450 reductase. Endocrinology 132 (1993) 2498-2506
22. 5 augments the 17,20 lyase activity of human P450c17 without direct electron transfer. J Biol Chem 273 (1998) 3158-3165
23. 5. endocrinological and mechanistic implications. Biochem J 308 (1995) 901-908
24. 5 in the biosynthesis of androgens by human P450c17. Arch Biochem Biophys 317 (1995) 343-347
25. 5 in adrenal microsomal steroidogenesis. J Steroid Biochem Mol Biol 42 (1992) 57-64
26. Pandey A.V., Mellon S.H., and Miller W.L. Protein phosphatase 2A and phosphoprotein SET regulate androgen production by P450c17. J Biol Chem 278 (2003) 2837-2844
27. Zhang L., Rodriguez H., Ohno S., and Miller W.L. Serine phosphorylation of human P450c17 increases 17,20-lyase activity. implications for adrenarche and the polycystic ovary syndrome. Proc Natl Acad Sci USA 92 (1995) 10619-10623
28. Miller W.L., Auchus R.J., and Geller D.H. The regulation of 17, 20 lyase activity. Steroids 62 (1997) 133-142
29. Auchus R.J., Worthy K.M., Geller D.H., and Miller W.L. Probing structural and functional domains of human P450c17. Endocr Res 26 (2000) 695-703
30. Auchus R.J., and Miller W.L. Molecular modeling of human P450c17 (17a-hydroxylase/17,20-lyase). insights into reaction mechanisms and effects of mutations. Mol Endocrinol 13 (1999) 1169-1182
31. Geller D.H., Auchus R.J., Mendonça B.B., and Miller W.L. The genetic and functional basis of isolated 17,20 lyase deficiency. Nat Genet 17 (1997) 201-205
32. 5. Mol Endocrinol 13 (1999) 167-175
33. Sherbet D.P., Tiosano D., Kwist K.M., Hochberg Z., and Auchus R.J. CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding. J Biol Chem 278 (2003) 48563-48569
34. Arlt W., Martens J.W.M., Song M., Wang J.T., Auchus R.J., and Miller W.L. Molecular evolution of adrenarche. structural and functional analysis of P450c17 from four primate species. Endocrinology 143 (2002) 4665-4672
35. Apter D., Pakarinen A., Hammond G.L., and Vihko R. Adrenocortical function in puberty. serum ACTH, cortisol and dehydroepiandrosterone in girls and boys. Acta Physiol Scand 68 (1979) 599-604
36. Sklar C.A., Kaplan S.L., and Grumbach M.M. Evidence for dissociation between adrenarche and gonadarche. studies in patients with idiopathic precocious puberty, gonadal dysgenesis, isolated gonadotropin deficiency, and constitutionally delayed growth and adolescence. J Clin Endocrinol Metab 51 (1980) 548-556
37. Orentreich N., Brind J.L., Rizer R.L., and Vogelman J.H. Age changes and sex differences in serum dehydroepiandrosterone sulfate concentrations throughout adulthood. J Clin Endocrinol Metab 59 (1984) 551-555
38. Copeland K.C., Eichberg J.W., Parker Jr. C.R., and Bartke A. Puberty in the chimpanzee. somatomedin-C and its relationship to somatic growth and steroid hormone concentrations. J Clin Endocrinol Metab 60 (1985) 1154-1160
39. Smail P.J., Faiman C., Hobson W.C., Fuller G.B., and Winter J.S. Further studies on adrenarche in nonhuman primates. Endocrinology 111 (1982) 844-848
40. Erickson G.F., Magoffin D.A., and Hofeditz C. The ovarian androgen producing cells. a review of structure/function relationships. Endocr Rev 6 (1985) 371-399
41. Zachow R.J., and Magoffin D.A. Granulosa cell modulation of luteinizing hormone-dependent androgen production by ovarian theca-interstitial cells. a temporal switch from suppression to augmentation stimulated by follicle-stimulating hormone in vitro. Biol Reprod 53 (1995) 758-765
42. Erickson G.F. An analysis of follicle development and ovum maturation. Semin Reprod Endocrinol 4 (1986) 233-252
43. Gilling-Smith C., Willis D.S., Beard R.W., and Franks S. Hypersecretion of androstenedione by isolated thecal cells from polycystic ovaries. J Clin Endocrinol Metab 79 (1994) 1158-1165
44. Franks S., and White D.M. Prevalence of and etiological factors in polycystic ovarian syndrome. Ann NY Acad Sci 687 (1993) 112-114
45. Ehrmann D.A., Barnes R.B., and Rosenfield R.L. Polycystic ovary syndrome as a form of functional ovarian hyperandrogenism due to dysregulation of androgen secretion. Endocr Rev 16 (1995) 322-353
46. Ibáñez L., Potau N., Zampolli M., Prat N., Gussinye M., Saenger P., et al. Source localization of androgen excess in adolescent girls. J Clin Endocrinol Metab 79 (1994) 1778-1784
47. Lachelin G.C., Barnett M., Hopper B.R., Brink G., and Yen S.S. Adrenal function in normal women and women with the polycystic ovary syndrome. J Clin Endocrinol Metab 49 (1979) 892-898
48. Lucky A.W., Rosenfield R.L., McGuire J., Rudy S., and Helke J. Adrenal androgen hyperresponsiveness to ACTH in women with acne and/or hirsutism. adrenal enzyme defects and exaggerated adrenarche. J Clin Endocrinol Metab 62 (1986) 840-848
49. Rosenfield R.L. Ovarian and adrenal function in polycystic ovary syndrome. Endocrinol Metab Clin North Am 28 (1999) 265-293
50. Ibáñez L., Potau N., Virdis R., Zampolli M., Terzi C., Gussinye M., et al. Postpubertal outcome in girls diagnosed of premature pubarche during childhood. increased frequency of functional ovarian hyperandrogenism. J Clin Endocrinol Metab 76 (1993) 1599-1603
51. Ibáñez L., Potau N., Francois I., and de Zegher F. Precocious pubarche, hyperinsulinism and ovarian hyperandrogenism in girls. relation to reduced fetal growth. J Clin Endocrinol Metab 83 (1998) 3558-3662
52. Ibáñez L., Potau N., Marcos M.V., and de Zegher F. Exaggerated adrenarche and hyperinsulinism in adolescent girls born small for gestational age. J Clin Endocrinol Metab 84 (1999) 4739-4741
53. Gupta M.K., Geller D.H., and Auchus R.J. Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency. J Clin Endocrinol Metab 86 (2001) 4416-4423
54. 106 and P450 reductase. Endocrinology 132 (1993) 2498-2506
55. Deshpande N., Addess K.J., Bluhm W.F., Merino-Ott J.C., Townsend-Merino W., Zhang Q., et al. The RCSB Protein Data Bank. a redesigned query system and relational database based on the mmCIF schema. Nucleic Acids Res 33 (2005) D233-D237
56. Case D.A., Pearlman D.A., Caldwell J.W., Cheatham III T.E., Wang J., Ross W.S., et al. 2002, AMBER 7 (Assisted Model Building with Energy Refinement) (2002), University of California, San Francisco, San Francisco
57. Fiser A., Do R.K., and Sali A. Modeling of loops in protein structures. Protein Sci 9 (2000) 1753-1773
58. Marti-Renom M.A., Stuart A., Fiser A., Sánchez R., Melo F., and Sali A. Comparative protein structure modeling of genes and genomes. Annu Rev Biophys Biomol Struct 29 (2000) 291-325
59. Sali A., and Blundell T.L. Comparative protein modeling by satisfaction of spatial restraints. J Mol Biol 234 (1993) 779-815
60. Shindyalov I.N., and Bourne P.E. Protein structure alignment by incremental combinatorial extension (CE) of the optimal path. Protein Eng 11 (1998) 739-747
61. Biason-Lauber A., Kempken B., Werder E., Forest M.G., Einaudi S., Ranke M.B., et al. 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation. role of phosphorylation. J Clin Endocrinol Metab 85 (2000) 1226-1231
62. Blom N., Gammeltoft S., and Brunak S. Sequence and structure based prediction of eukaryotic protein phosphorylation sites. J Mol Biol 294 (1999) 1351-1362
63. Falquet L., Pagni M., Bucher P., Hulo N., Sigrist C.J., Hofmann K., et al. The PROSITE database, its status in 2002. Nucleic Acids Res 30 (2002) 235-238