Role of mitochondria in steroidogenesis

Endocrine Development

Volumn 20, Issue , 2010, Pages 1-19

  Miller, Walter L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; CYTOCHROME P450; STEROID; STEROIDOGENIC ACUTE REGULATORY PROTEIN;

ADRENAL HYPERPLASIA; ARTICLE; CATALYSIS; CHOLESTEROL SIDE CHAIN CLEAVAGE; ELECTRON TRANSPORT; ENDOPLASMIC RETICULUM; ENZYME REGULATION; GENE MUTATION; GENETIC TRANSCRIPTION; GONADAL DYSGENESIS; HUMAN; KARYOTYPE 46,XY; MITOCHONDRION; P450 OXIDOREDUCTASE DEFICIENCY; PRIORITY JOURNAL; PROTEIN STRUCTURE; STEROIDOGENESIS;

ANIMALS; CELLS; CHOLESTEROL; CHOLESTEROL SIDE-CHAIN CLEAVAGE ENZYME; CYTOCHROME P-450 ENZYME SYSTEM; HUMANS; MITOCHONDRIA; MODELS, BIOLOGICAL; MODELS, MOLECULAR; STEROIDS;

EID: 78751550536     PISSN: 14217082     EISSN: 16622979     Source Type: Book Series    
DOI: 10.1159/000321204     Document Type: Article

References (110)

1. Soccio RE, Breslow JL: Intracellular cholesterol transport. Arterioscler Thromb Vasc Biol 2004;24: 1150-1160.
2. Haberland ME, Reynolds JA: Self-association of cholesterol in aqueous solution. Proc Natl Acad Sci USA 1973;70:2313-2316.
3. Gallegos AM, Atshaves BP, Storey SM, Starodub O, Petrescu AD, Huang H, McIntosh AL, Martin GG, Chao H, Kier AB, Schroeder F: Gene structure, intracellular localization, and functional roles of sterol carrier protein-2. Prog Lipid Res 2001;40:498-563.
4. Ponting CP, Aravind L: START: a lipid-binding domain in StAR, HD-ZIP and signalling proteins. Trends Biochem Sci 1999;24:130-132.
5. Soccio RE, Breslow JL: StAR-related lipid transfer (START) proteins: mediators of intracellular lipid metabolism. J Biol Chem 2003;278:22183-22186.
6. Soccio RE, Adams RM, Romanowski MJ, Sehayek E, Burley SK, Breslow JL: The cholesterol-regulated StarD4 gene encodes a StAR-related lipid transfer protein with two closely related homologues, StarD5 and StarD6. Proc Natl Acad Sci USA 2002;99:6943-6948.
7. Romanowski MJ, Soccio RE, Breslow JL, Burley SK: Crystal structure of the Mus musculus cholesterolregulated START protein 4 (StarD4) containing a StAR-related lipid transfer domain. Proc Natl Acad Sci USA 2002;99:6949-6954.
8. Soccio RE, Adams RM, Maxwell KN, Breslow JL: Differential gene regulation of StarD4 and StarD5 cholesterol transfer proteins. J Biol Chem 2005;280: 19410-19418.
9. Bose HS, Whittal RM, Ran Y, Bose M, Baker BY, Miller WL: StAR-like activity and molten globule behavior of StARD6, a male germ-line protein. Biochemistry 2008;47:2277-2288.
10. Riegelhaupt JJ, Waase MP, Garbarino J, Cruz DE, Breslow JL: Targeted disruption of steroidogenic acute regulatory protein D4 leads to modest weight reduction and minor alterations in lipid metabolism. J Lipid Res 2010;51:1134-1143.
11. Gonzalez FJ: The molecular biology of cytochrome P450s. Pharmacol Rev 1998;40:243-288.
12. Solish SB, Picado-Leonard J, Morel Y, Kuhn RW, Mohandas TK, Hanukoglu I, Miller WL: Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cena→q25 are expressed in steroidogenic tissues. Proc Natl Acad Sci USA 1988;85:7104-710814.
13. Picado-Leonard J, Voutilainen R, Kao L, Chung B, Strauss JF III, Miller WL: Human adrenodoxin: cloning of three cDNAs and cycloheximide enhancement in JEG-3 cells. J Biol Chem 1988;263:3240-3244.
14. Miller WL: Regulation of steroidogenesis by electron transfer. Endocrinology 2005;146:2544-2550.
15. Harikrishna JA, Black SM, Szklarz GD, Miller WL: Construction and function of fusion enzymes of the human cytochrome P450scc system. DNA Cell Biol 1993;12:371-379.
16. Black SM, Harikrishna JA, Szklarz GD, Miller WL: The mitochondrial environment is required for activity of the cholesterol side-chain cleavage enzyme, cytochrome P450scc. Proc Natl Acad Sci USA 1994;91:7247-7251.
17. Miller WL 1995 Mitochondrial specificity of the early steps in steroidogenesis. J Steroid Biochem Mol Biol 1995;55:607-616.
18. Voutilainen R, Miller WL: Coordinate tropic hormone regulation of mRNAs for insulin-like growth factor II and the cholesterol side-chain cleavage enzyme, P450scc, in human steroidogenic tissues. Proc Natl Acad Sci USA 1987;84:1590-1594.
19. Mesiano S, Mellon SH, Jaffe RB: Mitogenic action, regulation, and localization of insulin-like growth factors in the human fetal adrenal gland. J Clin Endocrinol Metab 1993;76:968-976.
20. Mesiano S, Mellon SH, Gospodarowicz D, Di Blasio AM, Jaffe RB: Basic fibroblast growth factor expression is regulated by corticotropin in the human fetal adrenal: a model for adrenal growth regulation. Proc Natl Acad Sci USA 1991;88:5428-5432.
21. Coulter CL, Read LC, Carr BR; A role for epidermal growth factor in the morphological and functional maturation of the adrenal gland in the fetal rhesus monkey in vivo. J Clin Endocrinol Metab 1996;81: 1254-1260.
22. Moore CCD, Brentano ST, Miller WL: Human P450scc gene transcription is induced through cyclic AMP and repressed by 12-O-tetradecanoylph orbol-13-acetate and A23187 by independent ciselements. Mol Cell Biol 1990;10:6013-6023.
23. Arakane F, King SR, Du Y, Kallen CB, Walsh LP, Watari H, Stocco DM, Strauss JF III: Phosphorylation of steroidogenic acute regulatory protein (StAR) modulates its steroidogenic activity. J Biol Chem 1997;272:32656-32662.
24. Stocco DM, Wang XJ, Jo Y, Manna PR: Multiple signaling pathways regulating steroidogenesis and steroidogenic acute regulatory protein expression: more complicated than we thought. Mol Endocrinol 2005;19:2647-2659.
25. Ferguson JJ: Protein synthesis and adrenocorticotropin responsiveness. J Biol Chem 1963;238: 2754-2759.
26. Garren LD, Ney RL, Davis WW: Studies on the role of protein synthesis in the regulation of corticosterone production by ACTH in vivo. Proc Natl Acad Sci USA 1965;53:1443-1450.
27. Davis WW, Garren LD: On the mechanism of action of adrenocorticotropic hormone. The inhibitory site of cycloheximide in the pathway of steroid biosynthesis. J Biol Chem 1968;243:5153-5157.
28. Pon LA, Hartigan JA, Orme-Johnson NR: Acute ACTH regulation of adrenal corticosteroid biosynthesis: rapid accumulation of a phosphoprotein. J Biol Chem 1986;261:13309-13316.
29. Epstein LF, Orme-Johnson NR: Regulation of steroid hormone biosynthesis: identification of precursors of a phosphoprotein targeted to the mitochondrion in stimulated rat adrenal cortex cells. J Biol Chem 1991;266:19739-19745.
30. Stocco DM, Sodeman TC: The 30-kDa mitochondrial proteins induced by hormone stimulation in MA-10 mouse Leydig tumor cells are processed from larger precursors. J Biol Chem 1991;266:19731-19738.
31. Clark BJ, Wells J, King SR, Stocco DM: The purification, cloning and expression of a novel luteinizing hormone-induced mitochondrial protein in MA-10 mouse Leydig tumor cells. Characterization of the steroidogenic acute regulatory protein (StAR). J Biol Chem 1994;269:28314-28322.
32. Stocco DM, Clark BJ: Regulation of the acute production of steroids in steroidogenic cells. Endocr Rev 1996;17:221-244.
33. Lin D, Sugawara T, Strauss JF III, Clark BJ, Stocco DM, Saenger P, Rogol A, Miller WL: Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science 1995;267:1828-1831.
34. Bose HS, Sugawara T, Strauss JF III, Miller WL: The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med 1996;335:1870-1878.
35. Chung B, Matteson KJ, Voutilainen R, Mohandas TK, Miller WL: Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta. Proc Natl Acad Sci USA 1986;83: 8962-8966.
36. Sugawara T, Holt JA, Driscoll D, Strauss JF III, Lin D, Miller WL, Patterson D, Clancy KP, Hart IM, Clark BJ, Stocco DM: Human steroidogenic acute regulatory protein (StAR): functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and an expressed pseudogene to chromosome 13. Proc Natl Acad Sci USA 1995;92:4778-4782.
37. Miller WL, Strauss JF III: Molecular pathology and mechanism of action of the steroidogenic acute regulatory protein, StAR. J Steroid Biochem Mol Biol 1999;69:131-141.
38. Miller WL: StAR search - what we know about how the steroidogenic acute regulatory protein mediates mitochondrial cholesterol import. Mol Endocrinol 2007;21:589-601.
39. Miller WL: Steroidogenic acute regulatory protein (StAR), a novel mitochondrial cholesterol transporter. Biochim Biophys Acta 2007;1771:663-676.
40. Arakane F, Sugawara T, Nishino H, Liu Z, Holt JA, Pain D, Stocco DM, Miller WL, Strauss JF III: Steroidogenic acute regulatory protein (StAR) retains activity in the absence of its mitochondrial targeting sequence: implications for the mechanism of StAR action. Proc Natl Acad Sci USA 1996;93: 13731-13736.
41. Bose HS, Lingappa VR, Miller WL 2002 Rapid regulation of steroidogenesis by mitochondrial protein import. Nature 417:87-91.
42. Tsujishita Y, Hurley JH: Structure and lipid transport mechanism of a StAR-related domain. Nat Struct Biol 2000;7:408-414.
43. Bose HS, Whittal RM, Baldwin MA, Miller WL: The active form of the steroidogenic acute regulatory protein, StAR, appears to be a molten globule. Proc Natl Acad Sci USA 1999;96:7250-7255.
44. Baker BY, Yaworsky DC, Miller WL: A pHdependent molten globule transition is required for activity of the steroidogenic acute regulatory protein, StAR. J Biol Chem 2005;280:41753-41760.
45. Christinsen K, Bose HS, Harris FM Miller WL, Bell JD: Binding of StAR to synthetic membranes suggests an active molten globule. J Biol Chem 2001; 276:17044-17051.
46. Tuckey RC, Headlam MJ, Bose HS, Miller WL: Transfer of cholesterol between phospholipid vesicles mediated by the steroidogenic acute regulatory protein (StAR). J Biol Chem 2002;277:47123-47128.
47. Baker BY, Epand RF, Epand RM, Miller WL: Cholesterol binding does not predict activity of the steroidogenic acute regulatory protein, StAR. J Biol Chem 2007;282:10223-10232.
48. Hauet T, Yao ZX, Bose HS, Wall CT, Han Z, Li W, Hales DB, Miller WL, Culty M, Papadopoulos V: Peripheral-type benzodiazepine receptor-mediated action of steroidogenic acute regulatory protein on cholesterol entry into Leydig cell mitochondria. Mol Endocrinol 2005;19:540-554.
49. Liu J, Rone MB, Papadopoulos V: Protein-protein interactions mediate mitochondrial cholesterol transport and steroid biosynthesis. J Biol Chem 2006;281:38879-38893.
50. Bose M, Whittal RM, Miller WL, Bose HS: Steroidogenic activity of StAR requires contact with mitochondrial VDAC1 and PCP. J Biol Chem 2008;283:8837-8845.
51. Artemenko IP, Zhao D, Hales DB, Hales KH, Jefcoate CR: Mitochondrial processing of newly synthesized steroidogenic acute regulatory protein (StAR), but not total StAR, mediates cholesterol transfer to cytochrome P450 side-chain cleavage enzyme in adrenal cells. J Biol Chem 2001;276: 46583-46596.
52. Bose HS, Whittal RM, Baldwin MA, Miller WL: The active form of the steroidogenic acute regulatory protein, StAR, appears to be a molten globule. Proc Natl Acad Sci USA 1999;96:7250-7255.
53. Moog-Lutz C, Tomasetto C, Regnier CH, Wendling C, Lutz Y, Muller D, Chenard MP, Basset P, Rio MC: MLN64 exhibits homology with the steroidogenic acute regulatory protein (StAR) and is overexpressed in human breast carcinomas. Int J Cancer 1997;71:183-191.
54. Watari H, Arakane F, Moog-Lutz C, Callen CB, Tomasetto C, Gerton GL, Rio MC, Baker ME, Strauss JF III: MLN64 contains a domain with homology to the steroidogenic acute regulatory protein (StAR) that stimulates steroidogenesis. Proc Natl Acad Sci USA 1997;94:8462-8467.
55. Bose HS, Whittal RM, Huang MC, Baldwin MA, Miller WL: N-218 MLN64, a protein with StAR-like steroidogenic activity, is folded and cleaved similarly to StAR. Biochemistry 2000;39:11722-11731.
56. Alpy F, Wendling C, Rio MC, Tomasetto C: MENTHO, a MLN64 homologue devoid of the START domain. J Biol Chem 2002;277:50780-50787.
57. Alpy F, Latchumanan VK, Kedinger V, Janoshazi A, Thiele C, Wendling C, Rio MC, Tomasetto C: Functional characterization of the MENTAL domain. J Biol Chem 2005;280:17945-17952.
58. Cheruku SR, Xu Z, Dutia R, Lobel P, Storch J: Mechanism of cholesterol transfer from the Niemann-Pick type C2 protein to model membranes supports a role in lysosomal cholesterol transport. J Biol Chem 2006;281:31594-31604.
59. Mathieu AP, Fleury A, Ducharme L, Lavigne P, LeHoux JG: Insights into steroidogenic acute regulatory protein (StAR)-dependent cholesterol transfer in mitochondria: evidence from molecular modeling and structure-based thermodynamics supporting the existence of partially unfolded states of StAR. J Mol Endocrinol 2002;29:327-345.
60. Yaworsky DC, Baker BY, Bose HS, Best KB, Jensen LB, Bell JD, Baldwin MA, Miller WL: pHdependent interactions of the carboxyl-terminal helix of steroidogenic acute regulatory protein with synthetic membranes. J Biol Chem 2005;280:2045-2054.
61. Murcia M, Faraldo-Gomez JD, Maxfield FR, Roux B: Modeling the structure of the StART domains of MLN64 and StAR proteins in complex with cholesterol. J Lipid Res 2006;47:2614-2630.
62. Baker BY, Yaworsky DC, Miller WL: A pHdependent molten globule transition is required for activity of the steroidogenic acute regulatory protein, StAR. J Biol Chem 2005;280:41753-41760.
63. Sandison AT: A form of lipoidosis of the adrenal cortex in an infant. Arch Dis Childh 1955;30:538-541.
64. Prader A, Gurtner HP: Das Syndrom des Pseudohermaphroditismus masculinus bei kongenitaler Nebennierenrindenhyperplasie ohne Androgenuberproduktion (adrenaler Pseudohermaphroditismus masculinus). Helv Paediatr Acta 1955;10:397-412.
65. Hauffa BP, Miller WL, Grumbach MM, Conte FA, Kaplan SL: Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20,22-desmolase) in a patient treated for 18 years. Clin Endocrinol 1985;23:481-493.
66. Camacho AM, Kowarski A, Migeon CJ, Brough A: Congenital adrenal hyperplasia due to a deficiency of one of the enzymes involved in the biosynthesis of pregnenolone. J Clin Endocrinol Metab 1968;28: 153-161.
67. Matteson KJ, Chung B, Urdea MS, Miller WL: Study of cholesterol side-chain cleavage (20,22-desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes. Endocrinology 1986;118: 1296-1305.
68. Lin D, Gitelman SE, Saenger P, Miller WL: Normal genes for the cholesterol side-chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia. J Clin Invest 1991;88:1955-1962.
69. Saenger P, Klonari Z, Black SM, Compagnone N, Mellon SH, Fleischer A, Abrams CAL, Shackleton CHL, Miller WL: Prenatal diagnosis of congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 1995;80:200-205.
70. Tee MK, Lin D, Sugawara T, Holt JA, Guiguen Y, Buckingham B, Strauss JF III, Miller WL: T→A transversion 11 bp from a splice acceptor site in the gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia. Hum Mol Genet 1995;4:2299-2305.
71. Miller WL: Congenital lipoid adrenal hyperplasia: the human gene knockout of the steroidogenic acute regulatory protein. J Mol Endocrinol 1997;19:227-240.
72. Ogata T, Matsuo N, Saito M, Prader A: The testicular lesion and sexual differentiation in congenital lipoid adrenal hyperplasia. Helv Paediatr Acta 1989; 43:531-538.
73. Chen X, Baker BY, Abduljabbar MA, Miller WL: A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings. J Clin Endocrinol Metab 2005;90:835-840.
74. Bose HS, Pescovitz OH, Miller WL: Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia caused by a homozygous frame-shift mutation in the steroidogenic acute regulatory protein. J Clin Endocrinol Metab 1997;82:1511-1515.
75. Fujieda K, Tajima T, Nakae J, Sageshima S, Tachibana K, Suwa S, Sugawara T, Strauss JF III: Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. J Clin Invest 1997;99:1265-1271.
76. Voutilainen R, Miller WL: Developmental expression of genes for the steroidogenic enzymes P450scc (20,22-desmolase), P450c17 (17α-hydroxylase/ 17,20-lyase) and P450c21 (21-hydroxylase) in the human fetus. J Clin Endocrinol Metab 1986;63:1145-1150.
77. Hasegawa T, Zhao L, Caron KM, Majdic G, Suzuki T, Shizawa S, Sasano H, Parker KL: Developmental roles of the steroidogenic acute regulatory protein (StAR) as revealed by StAR knockout mice. Mol Endocrinol 2000;14:1462-1471.
78. Nakae J, Tajima T, Sugawara T, Arakane F, Hanaki K, Hotsubo T, Igarashi N, Igarashi Y, Ishii T, Koda N, Kondo T, Kohno H, Nakagawa Y, Tachibana K, Takeshima Y, Tsubouchi K, Strauss JF III, Fujieda K: Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. Hum Mol Genet 1997;6:571-576.
79. Yoo HW, Kim GH: Molecular and clinical characterization of Korean patients with congenital lipoid adrenal hyperplasia. J Pediatr Endocrinol Metab 1998;11:707-711.
80. Bose HS, Sato S, Aisenberg J, Shalev SA, Matsuo N, Miller WL: Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 2000;85:3636-3639.
81. Fluck CE, Maret A, Mallet D, Portrat-Doyen S, Achermann JC, Leheup B, Theintz GE, Mullis PE, Morel Y: A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 2005;90:5304-5308.
82. Gassner HL, Toppari J, Quinteiro Gonzalez S, Miller WL: Near-miss apparent SIDS from adrenal crisis. J Pediatr 2004;145:178-183.
83. Baker BY, Lin L, Kim CJ, Raza L, Smith CP, Miller WL, Achermann JC: Non-classic congenital lipoid adrenal hyperplasia. A new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. J Clin Endocrinol Metab 2006;91:4781-4785.
84. Metherell LA, Naville D, Halaby G, Begeot M, Huebner A, Nurnberg G, Nurnberg P, Green J, Tomlinson JW, Krone NP, Lin L, Racine M, Berney DM, Achermann JC, Arlt W, Clark AJ: Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol Metab 2009;94:3865-3871.
85. Sahakitrungruang T, Soccio RE, Lang-Muritano M, Walker J, Achermann JC, Miller WL: Clinical, genetic and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR). J Clin Endocrinol Metab 2010;95:3352-3359.
86. Khoury K, Barbar E, Ainmelk Y, Ouellet A, LeHoux JG: Gonadal function, first cases of pregnancy, and child delivery in a woman with lipoid congenital adrenal hyperplasia. J Clin Endocrinol Metab 2009; 94:1333-1337.
87. Stone D, Hechter O: Studies on ACTH action in perfused bovine adrenals: aspects of progesterone as an intermediary in cortico-steroidogenesis. Arch Biochem Biophys 1955;54:121-128.
88. Koritz SB, Kumar AM: On the mechanism of action of adrenocorticotropic hormone - the stimulation of the activity of enzymes involved in pregnenolone synthesis. J Biol Chem 1970;245: 152-157.
89. Kuwada M, Kitajima R, Suzuki H, Horie S: Purification and properties of cytochrome P-450 (SCC) from pig testis mitochondria. Biochem Biophy Res Com 1991;176:1501-1508.
90. Tuckey RC, Cameron KJ: Catalytic properties of cytochrome P-450scc. Biochim Biophys Acta 1993; 1163:185-194.
91. Simpson ER: Cholesterol side-chain cleavage, cytochrome P450, and the control of steroidogenesis. Mol Cell Endocrinol 1979;13:213-227.
92. Miller WL: Molecular biology of steroid hormone synthesis. Endocr Rev 1988;9:295-318.
93. Morohashi K, Sogawa K, Omura T, Fujii-Kuriyama Y: Gene structure of human cytochrome P-450(scc), cholesterol desmolase. J Biochem 1987;101:879-887.
94. Yang X, Iwamoto K, Wang M, Artwohl J, Mason JI, Pang S: Inherited congenital adrenal hyperplasia in the rabbit is caused by a deletion in the gene encoding cytochrome P450 cholesterol side-chain cleavage enzyme. Endocrinology 1993;132:1977-1982.
95. Hu MC, Hsu NC, El Hadj NB, Pai CI, Chu HP, Wang CKL, Chung BC: Steroid deficiency syndromes in mice with targeted disruption of Cyp11a1. Mol Endocrinol 2002;16:1943-1950.
96. Tajima T, Fujieda K, Kouda N, Nakae J, Miller WL: Heterozygous mutation in the cholesterol side-chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency. J Clin Endocrinol Metab 2001;86:3820-3825.
97. Kim CJ, Lin L, Huang N, Quigley CA, AvRuskin TW, Achermann JC, Miller WL: Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side-chain cleavage enzyme, P450scc. J Clin Endocrinol Metab 2008;93: 696-702.
98. Hum DW, Miller WL: Transcriptional regulation of human genes for steroidogenic enzymes. Clin Chem 1993;39:333-340.
99. Parker KL, Schimmer BP: Steroidogenic factor 1: a key determinant of endocrine development and function. Endocr Rev 1997;18:361-377.
100. Morohashi K: Gonadal and extragonadal functions of Ad4BP/SF-1: developmental aspects. Trends Endocrinol Metab 1999;10:169-173.
101. Moore CCD, Hum DW, Miller WL: Identification of positive and negative placental-specific basal elements, a transcriptional repressor, and a cAMP response element in the human gene for P450scc. Mol Endocrinol 1992;6:2045-2058.
102. Huang N, Miller WL: Cloning of factors related to HIV-inducible LBP proteins that regulate steroidogenic factor-1-independent human placental transcription of the cholesterol side-chain cleavage enzyme, P450scc. J Biol Chem 2000;275:2852-2858.
103. Huang N, Miller WL: LBP proteins mediate SF1-independent expression of P450scc in human placental JEG-3 cells. Mol Endocrinol 2005;19: 409-420.
104. Henderson YC, Frederick MJ, Jayakumar Choi AY, Wang MT, Kang Y, Evans R, Spring PM, Uesugi M, Clayman GL: Human LBP-32/MGR is a repressor of the P450scc in human choriocarcinoma cell line JEG-3. Placenta 2007;28:152-160.
105. Henderson YC, Frederick MJ, Wang MT, Hollier LM, Clayman GL: LBP-1b, LBP-9, and LBP-32/MGR detected in syncytiotrophoblasts from firsttrimester human placental tissue and their transcriptional regulation. DNA Cell Biol 2008;27: 71-79.
106. Gizard F, Lavallee B, DeWitte F, Hum DW: A novel zinc finger protein TReP-132 interacts with CPB/p300 to regulate human CYP11A1 gene expression. J Biol Chem 2001;276:33881-33892.
107. Gizard F, Lavallee B, DeWitte F, Teissier E, Staels B, Hum DW: The transcriptional regulating protein of kDa (TReP-132) enhances P450scc gene transcription through interaction with steroidogenic factor-1 in human adrenal cells. J Biol Chem 2002; 277:39144-39155.
108. Katsumata N, Ohtake M, Hojo T, Ogawa E, Hara T, Sato N, Tanaka T: Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans. J Clin Endocrinol Metab 2002;87: 3808-3813.
109. Hiort O, Holterhus P-M, Werner R, Marschke C, Hoppe U, Partsch J, Riepe FG, Achermann JC, Struve D: Homozygous disruption of P450 sidechain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure. J Clin Endocrinol Metab 2005;90: 538-541.
110. Al Kandari H, Katsumata N, Alexander S, Rasoul MA: Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46,XY patient with adrenal insufficiency, complete sex reversal and agenesis of corpus callosum. J Clin Endocrinol Metab 2006;91:2821-2826.