Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 92, Issue 10, 2007, Pages 4028-4034

  Araújo, Rogério S ^a   Mendonca, Berenice B ^a   Barbosa, Ângela S ^b   Lin, Chin J ^a   Marcondes, José A M ^a   Billerbeck, Ana Elisa C ^a   Bachega, Tânia A S S ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b INSTITUTO BUTANTAN   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; STEROID 21 MONOOXYGENASE;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYP21A1P GENE; CYP21A2 GENE; GENE INTERACTION; GENE MUTATION; GENETIC TRANSCRIPTION; GENOTYPE; HETEROZYGOSITY; HORMONE DETERMINATION; HUMAN; METABOLISM; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; PSEUDOGENE; SCHOOL CHILD; STEROID 21 MONOOXYGENASE DEFICIENCY; WILD TYPE;

EID: 35349010556     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-2163     Document Type: Article

References (39)

1. White PC, Speiser PW 2000 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 21:245-291
2. Levine LS, Dupont B, Lorenzen F, Pang S, Pollack M, Oberfield S, Kohn B, Lerner A, Cacciari E, Mantero F, Cassio A, Scaroni C, Chiumelo G, Rondanini GF, Gargantini C, Giovannelli G, Virdis R, Bartolotta E, Migliori C, Pintor C, Tato L, Barboni F, New MI 1980 Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia. J Clin Endocrinol Metab 51:1316-1324
3. Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT, Lesser M, New MI, White PC 1992 Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 90:584-595
4. Wedell A, Thilén A, Ritzén EM, Stengler B 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
5. Wilson RC, Mercado AB, Cheng KC, New MI 1995 Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. J Clin Endocrinol Metab 80:2322-2329
6. Rumsby G, Avey CJ, Conway GS, Honour JW 1998 Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms. Clin Endocrinol (Oxf) 6:707-711
7. Deneux C, Tardy V, Dib A, Mornet E, Billaud L, Charron D, Morel Y, Kuttenn F 2001 Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 86:207-213
8. Pinto G, Tardy V, Trivin C, Thalassinos C, Lortat-Jacob S, Nihoul-Fékété C, Morel Y, Brauner R 2003 Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management. J Clin Endocrinol Metab 88:2624-2633
9. Bachega TASS, Billerbeck AEC, Parente EB, Lemos-Marini SHV, Baptista MT, Mello MP, Guerra GJr, Kuperman H, Setian N, Damiani D, Torres N, Castro M, Mendonça BB 2004 Multicentric study of Brazilian patients with 21-hydroxylase deficiency. A genotype-phenotype correlation. Arq Bras Endocrinol Metab 48:697-704
10. Higashi Y, Tanae A, Inoue H, Fujii-Kuryama 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. Donohoue PA, Jospe N, Migeon CJ, Van Dop C 1989 Two distinct areas of unequal crossing over within the steroid 21-hydroxylase genes produce absence of CYP21B. Genomics 5:397-406
12. Barbat B, Bogyo A, Raux-Demay MC, Kutten F, Boue J, Simon-Bouy B, Serre JL, Mornet E 1995 Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency. Hum Mut 5:126-130
13. Carrera P, Bordone L, Azzani T, Brunelli V, Garancini MP, Chiumello G, Ferrari M 1996 Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency. Hum Genet 98:662-665
14. Bachega TASS, Billerbeck AEC, Madureira G, Marcondes JA, Longui CA, Leite MV, Arnhold IJP, Mendonca BB 1998 Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency. J Clin Endocrinol Metab 83:4416-4419
15. Weintrob N, Brautbar C, Pertzelan A, Josefsberg Z, Dickerman Z, Kauschansky A, Lilos P, Peled D, Phillip M, Israel S 2000 Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency. Eur J Endocrinol 143:397-403
16. Kagawa N, Waterman MR 1990 cAMP-dependent transcription of the human CYP21B (P-450C21) gene requires a cis-regulatory element distinct from the consensus cAMP-regulatory element. J Biol Chem 265:299-305
17. Kagawa, N, Waterman MR 1991 Evidence that an adrenal specific nuclear protein regulates the cAMP responsiveness of the human CYP21B (P450C21) gene. J Biol Chem 266:11199-11204
18. Bristow J, Gitelman SE, Tee MK, Staels B, Miller WL 1993 Abundant adrenal-specific transcription of the human P450c21A "pseudogene." J Biol Chem 268:12919-12924
19. Chang SF, Chung BC 1995 Differences in transcriptional activity of two homologous CYP21A genes. Mol Endocrinol 9:1330-1336
20. Tee MK, Babalola GO, Aza-Blanc P, Speek M, Gitelman SE, Miller WL 1995 A promoter within intron 35 of the human C4A gene initiates abundant adrenal-specific transcription of a 1 kb RNA: location of a cryptic CYP21 promoter element? Hum Mol Genet 4:2109-2116
21. Wijesuriya SD, Zhang G Dardis A, Miller WL 1999 Transcriptional regulatory elements of the human gene for cytochrome P450c21 (steroid 21-hydroxylase) lie within intron 35 of the linked C4B gene. J Biol Chem 274:38097-38106
22. Ninkarm S, Cerame BI, Wei J-Q, Dumic M, Zunec R, Brkljacic L, Skrabic V, New MI, Wilson R 1999 Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations. J Clin Endocrinol Metab 84:1378-1381
23. Bobba A, Marra E, Lattanzio P, Iolascon A, Giannattasio S 2000 Characterization of the CYP21 gene 5′ flanking region in patients affected by 21-OH deficiency. Mutation in brief no. 321, online. Hum Mutat 15:481
24. L'Allemand D, Tardy V, Gruters A, Schnabel D, Krude H, Morel Y 2000 How a patient homozygous for a 30-kb deletion of the C4-CYP21 genomic region can have non-classic form of 21-hydroxylase deficiency. J Clin Endocrinol Metab 85:4562-4567
25. Bachega TAAS, Billerbeck AEC, Marcondes JAM, Madureira G, Arnhold IJP, Mendonca BB 2000 Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol (Oxf) 52:601-607
26. 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
27. Ulgiati D, Townend DC, Christiansen FT, Dawkins RL, Abraham LJ 1996 Complete sequence of the complement C4 gene from the HLA-A1, B8, C4AQ0, C4B1, DR3 haplotype. Immunogenetics 43:250-252
28. Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y 1986 Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proc Natl Acad Sci USA 83:2841-2845
29. Rodriguez H, Hum DW, Staels B, Miller W 1997 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 82:365-370
30. Read ML 1996 Essential techniques. In: Dockert K, ed. Gene transcription: DNA binding proteins. Chichester, UK: John Wiley and Sons; 6-11
31. Chin KK, Chang SF 1998 The 104G nucleotide of the human CYP21 gene is important for CYP21 transcription activity and protein interaction. Nucleic Acids Res 26:1959-1964
32. Speiser PW, New MI, White PC 1988 Molecular genetic analysis of non-classic steroid 21-hydroxylase deficiency associated with HLA-B14, DR1. N Engl J Med 319:19-23
33. Higashi Y, Tanae A, Inoue H, Hiromasa T, Fujii-Kuriyama Y 1988 Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450 (C21)] deficiency in humans: possible gene conversion products. Proc Natl Acad Sci USA 85:7486-7490
34. Araujo RS, Billerbeck AEC, Madureira G, Mendonca BB, Bachega TASS 2005 Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation. Clin Endocrinol (Oxf) 62:132-136
35. Admoni O, Israel S, Lavi I, Gur M, Tenenbaum-Rakover Y 2006 Hyperandrogenism in carriers of CYP21 mutations: the role of genotype. Clin Endocrinol (Oxf) 64:645-651
36. New MI 2006 Extensive clinical experience. Nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab 91:4205-4214
37. Azziz R, Dewailly D, Owerbach D 1994 Clinical review 56: nonclassic adrenal hyperplasia: current concepts. J Clin Endocrinol Metab 78:810-815
38. Bachega TASS, Brenlha EM, Billerbeck AEC, Marcondes JAM, Madureira G, Arnhold IJP, Mendonca BB 2002 Variable ACTH-stimulated 17- hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations. J Clin Endocrinol Metab 87:786-790
39. New MI, Lorenzen F, Lerner AJ, Kohn B, Oberfield SE, Pollack MS, Dupont BO, Stoner E, Levy DJ, Pang S, Levine LS 1983 Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. J Clin Endocrinol Metab 57:320-326