Synergistic effect of partially inactivating mutations in steroid 21- hydroxylase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 1, 1997, Pages 194-199

  Nikoshkov, Andrej ^a   Lajic, Svetlana ^a   Holst, Mikael ^a   Wedell, Anna ^a   Luthman, Holger ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; ANDROGEN; HYDROCORTISONE; HYDROXYPROGESTERONE; PROGESTERONE; STEROID 21 MONOOXYGENASE;

ALDOSTERONE RELEASE; ALLELE; ANDROGEN RELEASE; ARTICLE; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; ENZYME ACTIVITY; FEMALE; GENE EXPRESSION; HUMAN; HUMAN CELL; HYDROCORTISONE RELEASE; HYPERANDROGENISM; MALE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; STEROID 21 MONOOXYGENASE DEFICIENCY;

17-ALPHA-HYDROXYPROGESTERONE; ADRENAL HYPERPLASIA, CONGENITAL; ANIMALS; CHILD; COS CELLS; FEMALE; GENE DELETION; GENE EXPRESSION; GENOTYPE; HUMANS; KINETICS; MALE; MUTAGENESIS; MUTAGENESIS, SITE-DIRECTED; PROGESTERONE; PROTEIN BIOSYNTHESIS; PSEUDOGENES; RECOMBINANT PROTEINS; STEROID 21-HYDROXYLASE; SUBSTRATE SPECIFICITY; TRANSFECTION;

EID: 0031023169     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.82.1.194     Document Type: Article

References (37)

1. White PC, New MI, Dupont B. 1987 Congenital adrenal hyperplasia. N Engl J Med. 316:1519-1524.
2. Miller WL, Morel Y. 1989 The molecular genetics of 21-hydroxylase deficiency. Annu Rev Genet. 23:371-393.
3. Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI. 1985 High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet. 37:650-667.
4. Carroll MC, Campbell RD, Porter RR. 1985 Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man. Proc Natl Acad Sci USA. 82:521-525.
5. White PC, Grossberger D, Onufer BJ, et al. 1985 Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. Proc Natl Acad Sci USA. 82:1089-1093.
6. Schneider PM, Carroll MC, Alper CA, et al. 1986 Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. J Clin Invest. 78:650-657.
7. Werkmeister JW, New MI, Dupont B, White PC. 1986 Frequent deletion and duplication of the steroid 21-hydroxylase genes. Am J Hum Genet. 39:461-469.
8. Donohoue PA, Van Dop C, McLean RH, White PC, Jospe N, Migeon CJ. 1986 Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein. J Clin Endocrinol Metab. 62:995-1002.
9. Matteson KJ, Phillips III JA, Miller WL, et al. 1987 P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia. Proc Natl Acad Sci USA. 84:5858-5862.
10. Higashi Y, Tanae A, Inoue H, Fujii-Kuriyama Y. 1988 Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency. Am J Hum Genet. 42:17-25.
11. Wedell A, Luthman H. 1993 Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations. Hum Mol Genet. 2:499-504.
12. Wedell A, Thilén A, Ritzén EM, Stengler B, Luthman H. 1994 Mutational spectrum of the steroid 21-hydroxylase gene in sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab. 78:1145-1152.
13. Speiser PW, New MI, White PC. 1988 Molecular genetic analysis of nonclassical steroid 21-hydroxylase deficiency associated with HLA-B14,DR1. N Engl J Med. 319:19-23.
14. Wedell A, Ritzén ME, Haglund-Stengler B, Luthman H. 1992 Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations. Proc Natl Acad Sci USA. 89:7232-7236.
15. Helmberg A, Tusie-Luna M-T, Tabarelli M, Kofler R, White PC. 1992 R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions. Mol Endocrinol. 6:1318-1322.
16. Owerbach D, Sherman L, Ballard A-L, Azziz R. 1992 Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency. Mol Endocrinol. 6:1211-1215.
17. Haglund-Stengler B, Ritzén EM, Gustafsson J, Luthman H. 1991 Haplotypes of the 21-hydroxylase gene region encoding mild 21-hydroxylase deficiency. Proc Natl Acad Sci USA. 88:8352-8356.
18. Chiou S-H, Hu M-C, Chung B-C. 1990 A missense mutation at Ile172→Asn or Arg356→Trp causes steroid 21-hydroxylase deficiency. J Biol Chem. 265:3549-3552.
19. Deng WP, Nickoloff JA. 1992 Site-directed mutagenesis of virtually any plasmid by eliminating a unique site. Anal Biochem. 200:81-88.
20. Winqvist O, Karlsson FA, Kämpe O. 1992 21-Hydroxylase, a major autoantigen in idiopathic Addison's disease. Lancet. 339:1559-1562.
21. Nielsen DA, Shapiro DJ. 1990 Insights into hormonal control of messenger RNA stability. Mol Endocrinol. 4:953-957.
22. Haglund-Stengler B, Ritzén EM, Luthman H. 1990 21-Hydroxylase deficiency: disease-causing mutations categorized by densitometry of 21-hydroxylase-specific deoxyribonucleic acid fragments. J Clin Endocrinol Metab. 70:43-48.
23. Tusie-Luna M-T, Traktman P, White PC. 1990 Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus. J Biol Chem. 265:20916-20922.
24. Tusie-Luna M-T, Speiser PW, Dumic M, New MI, White PC. 1991 A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele. Mol Endocrinol. 5:685-692.
25. Wu D-A, Chung B-C. 1991 Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively. J Clin Invest. 88:519-523.
26. Poulos TL, Finzel BC, Howard AJ. 1987 High-resolution crystal structure of cytochrome P450cam. J Mol Biol. 195:687-700.
27. Ravichandran KG, Boddupalli SS, Hasemann CA, Peterson JA, Deisenhofer J. 1993 Crystal structure of hemoprotein domain of P450BM-3, a prototype for microsomal P450's. Science. 261:731-736.
28. Hasemann CA, Ravichandran KG, Peterson JA, Deisenhofer J. 1994 Crystal structure and refinement of cytochrome P450terp at 2.3 Å resolution. J Mol Biol. 236:1169-1185.
29. Cupp-Vickery JR, Poulos TL. 1995 Structure of cytochrome P450eryF involved in erythromycin biosynthesis. Nature Struct Biol. 2:144-153.
30. Edwards RJ, Murray BP, Boobis AR, Davies DS. 1989 Identification and location of α-helices in mammalian cytochromes P450. Biochemistry 28:3762-3770.
31. Picado-Leonard J, Miller WL. 1988 Homologous sequences in steroidogenic enzymes, steroid receptors and a steroid binding protein suggest a consensus steroid-binding sequence. Mol Endocrinol. 2:1145-1150.
32. Chung B-C, Matteson KJ, Miller WL. 1986 Structure of a bovine gene for P-450c21 (steroid 21-hydroxylase) defines a novel cytochrome P-450 gene family. Proc Natl Acad Sci USA. 83:4243-4247.
33. Yoshioka H, Morohashi K-I, Sogawa K, et al. 1986 Structural analysis of cloned cDNA for mRNA of microsomal cytochrome P-450(C21) which catalyzes steroid 21-hydroxylation in bovine adrenal cortex. J Biol Chem. 261:4106-4109.
34. Chaplin DD, Galbraith LJ, Seidman JG, White PC, Parker KL. 1986 Nucleotide sequence analysis of murine 21-hydroxylase genes: mutations affecting gene expression. Proc Natl Acad Sci USA. 83:9601-9605.
35. Haniu M, Yanagibashi K, Hall PF, Shively JE. 1987 Complete amino acid sequence of 21-hydroxlyase cytochrome P-450 from porcine adrenal microsomes. Arch Biochem Biophys. 254:380-384.
36. Kozack M. 1989 The scanning model for translation: an update. J Cell Biol 108:229-241.
37. Higashi Y, Hiromasa T, Tanae A, et al. 1991 Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency. J Biochem (Tokyo). 109:638-644.