Molecular biology of steroid hydroxylase deficiency

References

1. • New MI
   Clinical and endocrinological aspects of 21-hydroxylase deficiency.
   Ann NY Acad Sci. 1985; 458: 1
   • Google Scholar
2. • New MI
   Congenital enzymatic defects of the adrenal.
   in: Anderson DC Winter JSD Adrenal Cortex. Butterworths, London1985: 153
   • Google Scholar
3. • White PC
   • Chaplin DD
   • Weis JH
   • et al.
   Two steroid 21-hydroxylase genes are located in the murine S region.
   Nature. 1984; 312: 465
   • Google Scholar
4. • Garlepp MJ
   • Wilton AN
   • Dawkins RL
   • et al.
   Rearrangement of 21-hydroxylase genes in disease-associated MHC supratypes.
   Immunogenetics. 1986; 23: 100
   • Google Scholar
5. • Stoner E
   • Dimartino-Nardi J
   • Kuhnle U
   • et al.
   Is salt-wasting in congenital adrenal hyperplasia due to the same gene as the fasciculata defect?.
   Clin Endocrinol. 1986; 24: 9
   • Google Scholar
6. • Donohoue PA
   • Van-Dop C
   • Jospe N
   • et al.
   Congenital adrenal hyperplasia. Molecular mechanisms resulting in 21-hydroxylase deficiency.
   Acta Endocrinol Suppl. 1986; 279: 315
   • Google Scholar
7. • Speiser PW
   • Dupont B
   • Rubinstein P
   • et al.
   High frequency of nonclassical steroid 21-hydroxylase deficiency.
   Am J Human Genet. 1985; 37: 650
   • Google Scholar
8. • Speiser PW
   • New MI
   Genotype and hormonal phe-notype in nonclassical 21-hydroxylase deficiency.
   J Clin Endocrinol Metab. 1987; 64: 86
   • Google Scholar
9. • Knorr D
   • Bidlingmaier F
   • Holler W
   • et al.
   Is heterozygosity for the steroid 21-hydroxylase deficiency responsible for hirsutism, premature pubarche, early puberty, and precocious puberty in children?.
   Acta Endocrinol Suppl. 1986; 279: 284
   • Google Scholar
10. • Child DF
    • Bu'lock DE
    • Anderson DC
    Adrenal steroidogenesis in hirsute women.
    Clin Endocrinol. 1980; 12: 595
    • Google Scholar
11. • Chrousos GP
    • Loriaux DL
    • Mann DL
    • et al.
    Late-onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease.
    Ann Intern Med. 1982; 96: 143
    • Google Scholar
12. • Bongiovanni AM
    The response of several adrenocortical steroids to the administration of ACTH in hirsute women.
    J Steroid Biochem. 1983; 18: 745
    • Google Scholar
13. • Conway DI
    • Anderson DC
    • Gordon MT
    • et al.
    Adrenal progesterone, 17α-hydroxyprogesterone and Cortisol responses to synacthen in normal women and women with various gynaecological disorders.
    Clin Endocrinol. 1983; 19: 77
    • Google Scholar
14. • Dewailly D
    • Vantyghem-Haudiquet MC
    • Sainsard C
    • et al.
    Clinical and biological phenotypes in late-onset 21-hydroxylase deficiency.
    J Clin Endocrinol Metab. 1986; 63: 418
    • Google Scholar
15. • Temeck JW
    • Pang SY
    • Nelson C
    • et al.
    Genetic defects of steroidogenesis in premature pubarche.
    J Clin Endocrinol Metab. 1987; 64: 609
    • Google Scholar
16. • Higashi Y
    • Yoshioka H
    • Yamane M
    • et al.
    Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome. A pseudo-gene and a genuine gene.
    Proc Natl Acad Sci USA. 1986; 83: 2841
    • Google Scholar
17. • White PC
    • New MI
    • Dupont B
    Structure of human steroid 21-hydroxylase genes.
    Proc Natl Acad Sci USA. 1986; 83: 5111
    • Google Scholar
18. • Phillips IR
    • Shephard EA
    Complementary genes for an adrenal enzyme deficiency.
    Nature. 1985; 314: 130
    • Google Scholar
19. • Chung BC
    • Matteson KJ
    • Miller WL
    Structure of a bovine gene for P-450c21 (steroid 21-hydroxylase) defines a novel cytochrome P-450 gene family.
    Proc Natl Acad Sci USA. 1986; 83: 4243
    • Google Scholar
20. • Chaplin DD
    • Galbraith LJ
    • Seidman JG
    • et al.
    Nucleotide sequence analysis of murine 21-hydroxylase genes. Mutations affecting gene expression.
    Proc Natl Acad Sci USA. 1986; 83: 9601
    • Google Scholar
21. • Parker KL
    • Chaplin DD
    • Wong M
    • et al.
    Expression of murine 21-hydroxylase in mouse adrenal glands and in transfected Yl adrenocortical tumor cells.
    Proc Natl Acad Sci USA. 1985; 82: 7860
    • Google Scholar
22. • White PC
    • New MI
    • Dupont B
    HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for 21-hydroxyla-tion.
    Proc Natl Acad Sci USA. 1984; 81: 7505
    • Google Scholar
23. • Werkmeister JW
    • New MI
    • Dupont B
    • et al.
    Frequent deletion and duplication of the steroid 21-hydroxylase genes.
    Am J Human Genet. 1986; 39: 461
    • Google Scholar
24. • Donohoue PA
    • van-Dop C
    • McLean RH
    • et al.
    Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein.
    J Clin Endocrinol Metab. 1986; 62: 995
    • Google Scholar
25. • Jospe N
    • Donohoue PA
    • van-Dop C
    • et al.
    Prevalence of polymorphic 21-hydroxylase gene (CA21HB) mutations in salt-losing congenital adrenal hyperplasia.
    Biochem Biophys Res Commun. 1987; 142: 798
    • Google Scholar
26. • Amor M
    • New MI
    • White PC
    A single base change in the OH21B gene causing steroid 21-hydroxylase deficiency.
    Endocrinology Suppl. 1987; 120: 272
    • Google Scholar
27. • Sharp PA
    Splicing of messenger RNA precursors.
    Science. 1987; 235: 766
    • Google Scholar
28. • Hornsby PJ
    Regulation of 21-hydroxylase activity by steroids in cultured bovine adrenocortical cells. Possible significance for adrenocortical androgen synthesis.
    Endocrinology. 1982; 111: 1092
    • Google Scholar
29. • Hornsby PJ
    • Crivello JF
    The role of lipid peroxidation and biological antioxidants in the function of the adrenal cortex. Part 1. A background review.
    Mol Cell Endocrinol. 1983; 30: 1
    • Google Scholar
30. • Hornsby PJ
    • Crivello JF
    The role of lipid peroxidation and biological antioxidants in the function of the adrenal cortex. Part 2.
    Mol Cell Endocrinol. 1983; 30: 123
    • Google Scholar
31. • Hornsby PJ
    Cytochrome P-450/pseudosubstrate interactions and the role of antioxidants in the adrenal cortex.
    Endocrine Res. 1986; 12: 469
    • Google Scholar
32. • Hornsby PJ
    Cytochrome P-450/pseudosubstrate interactions in the adrenal cortex and their possible role in adrenocortical pathology.
    in: Mantero F. Vecsei P. Corticosteroids and Peptide Hormones in Hypertension. Raven Press, New York1987: 11-25
    • Google Scholar

33. Hornsby PJ: Physiological and pathological effects of steroids on the function of the adrenal cortex. J Steroid Biochem (in press)

    • Google Scholar
34. • Narasimhulu S
    Uncoupling of oxygen activation from hydroxylation in the steroid C-21 hydroxylase of bovine adrenocortical microsomes.
    Arch Biochem Biophys. 1971; 147: 384
    • Google Scholar
35. • Schenkman JB
    • Sligar SG
    • Cinti DL
    Substrate interaction with cytochrome P-450.
    Pharmacol Ther. 1981; 12: 43
    • Google Scholar
36. • Neville AM
    • O'Hare MJ
    The Human Adrenal Cortex. Pathology and Biology—An Integrated Approach. Springer-Verlag, Berlin1982
    • Google Scholar
37. • Hornsby PJ
    • Aldern KA
    • Harris SE
    Methylcholan-threne. A possible pseudosubstrate for adrenocortical 17a-hydroxylase and aryl hydrocarbon hydroxylase.
    Biochem Pharmacol. 1986; 35: 3209
    • Google Scholar
38. • Crivello JF
    • Hornsby PJ
    • Gill GN
    Metyrapone and an-tioxidants are required to maintain aldosterone synthesis by cultured bovine adrenocortical cells.
    Endocrinology. 1982; 111: 469
    • Google Scholar
39. • Crivello JF
    • Gill GN
    Induction of cultured bovine adrenocortical zona glomerulosa cell 17-hydroxylase activity by ACTH.
    Mol Cell Endocrinol. 1983; 30: 97
    • Google Scholar
40. • Boehm BO
    • Rosak C
    • Kuehnl P
    • et al.
    Late-onset form of congenital adrenal hyperplasia in the HLA-B14; DR1 haplotype is caused by a duplication in the 21-OH MHC gene region.
    Horm Metab Res. 1986; 18: 791
    • Google Scholar
41. • Mornet E
    • Couillin P
    • Kutten F
    • et al.
    Associations between restriction fragment length polymorphisms detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency.
    Human Genet. 1986; 74: 402
    • Google Scholar
42. • Waterman MR
    • Simpson ER
    Regulation of the biosynthesis of cytochromes P-450 involved in steroid hormone synthesis.
    Mol Cell Endocrinol. 1985; 39: 81
    • Google Scholar
43. • Hornsby PJ
    • Aldern KA
    Steroidogenic enzyme activities in cultured human definitive zone adrenocortical cells. Comparison with bovine adrenocortical cells and resultant differences in adrenal androgen synthesis.
    J Clin Endocrinol Metab. 1984; 58: 121
    • Google Scholar
44. • Purvis JL
    • Canick JA
    • Mason JI
    • et al.
    Lifetime of adrenal cytochrome P-450 as influenced by ACTH.
    Ann NY Acad Sci. 1973; 212: 319
    • Google Scholar
45. • Funkenstein B
    • McCarthy JL
    • Dus KM
    • et al.
    Effect of adrenocorticotropin on steroid 21-hydroxylase synthesis and activity in cultured bovine adrenocortical cells. Increased synthesis in the absence of increased activity.
    J Biol Chem. 1983; 258: 9398
    • Google Scholar
46. • John ME
    • Okamura T
    • Dee A
    • et al.
    Bovine steroid 21-hydroxylase. Regulation of biosynthesis.
    Biochemistry. 1986; 25: 2846
    • Google Scholar
47. • John ME
    • John MC
    • Boggaram V
    • et al.
    Transcriptional regulation of steroid hydroxylase genes by corticotropin.
    Proc Natl Acad Sci USA. 1986; 83: 4715
    • Google Scholar
48. • Parker KL
    • Chaplin DD
    • Wong M
    • et al.
    Molecular analysis of 21-hydroxylase gene expression in mouse adrenal cells.
    Endocrine Res. 1986; 12: 409
    • Google Scholar
49. • Parker KL
    • Schimmer BP
    • Chaplin DD
    • et al.
    Characterization of a regulatory region of the steroid 21-hydroxylase gene.
    J Biol Chem. 1986; 261: 15353
    • Google Scholar
50. • Nagamine Y
    • Reich E
    Gene expression and cAMP.
    Proc Natl Acad Sci USA. 1985; 82: 4606
    • Google Scholar
51. • Wynshaw-Boris A
    • Short JM
    • Hanson RW
    The determination of sequence requirements for hormonal regulation of gene expression.
    BioTechniques. 1986; 4: 104
    • Google Scholar
52. • Rasmussen H
    • Kojima I
    • Kojima K
    • et al.
    Calcium as intracellular messenger. Sensitivity modulation, C-kinase pathway, and sustained cellular response.
    Adv Cyclic Nucleotide Protein Phosphorylation Res. 1984; 18: 59
    • Google Scholar
53. • McAllister JM
    • Hornsby PJ
    TPA inhibits the synthesis of androgens and Cortisol and enhances the synthesis of non-17α-hydroxylated steroids in cultured human adrenocortical cells.
    Endocrinology. 1987; 121: 1908
    • Google Scholar
54. • McAllister JM
    • Hornsby PJ
    Dual regulation of 3β-hydroxysteroid dehydrogenase, 17α-hydroxylase, and DHEA sulfotransferase by cyclic AMP and activators of protein kinase C in cultured human adrenocortical cells.
    Endocrinology. 1988; (in press)
    • Google Scholar

55. Hornsby PJ: The mechanism of action of ACTH on the adrenal cortex. New Comprehensive Biochemistry. Edited by BA Cooke, RJB King, HJ van der Molen. Amsterdam, Elsevier (in press)

    • Google Scholar
56. • Angel P
    • Rahmsdorf HJ
    • Pöting A
    • et al.
    12-O-Tetra-decanoylphorbol-13-acetate (TPA)-induced gene sequences in human primary diploid fibroblasts and their expression in SV40-transformed fibroblasts.
    J Cell Biochem. 1985; 29: 351
    • Google Scholar
57. • Rabin MS
    • Doherty PJ
    • Gottesman MM
    The tumor promoter phorbol 12-myristate 13-acetate induces a program of altered gene expression similar to that induced by platelet-derived growth factor and transforming oncogenes.
    Proc Natl Acad Sci USA. 1986; 83: 357
    • Google Scholar
58. • Elsholtz HP
    • Mangalam HJ
    • Potter E
    • et al.
    Two different cis-active elements transfer the transcriptional effects of both EGF and phorbol esters.
    Science. 1986; 234: 1552
    • Google Scholar