Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency

Brazilian Journal of Medical and Biological Research

Volumn 29, Issue 1, 1996, Pages 1-13

  De Araujo, M ^a   Sanches, M R ^a   Suzuki, L A ^a   Guerra Jr , G ^a   Farah, S B ^a   De Mello, M P ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

21 hydroxylase deficiency; Congenital adrenal hyperplasia; Gene deletion; Steroid 21 hydroxylase gene

Indexed keywords

ALDOSTERONE; ANDROGEN; HYDROCORTISONE; STEROID 21 MONOOXYGENASE;

BIOSYNTHESIS; BLOOD; BRAZIL; CHILD; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; GENE DELETION; GENE FREQUENCY; GENETICS; HUMAN; INFANT; MALE; MUTATION; NEWBORN; PRESCHOOL CHILD; REVIEW; SEX DIFFERENTIATION; SOUTHERN BLOTTING;

ADRENAL HYPERPLASIA, CONGENITAL; ALDOSTERONE; ANDROGENS; BLOTTING, SOUTHERN; BRAZIL; CHILD; CHILD, PRESCHOOL; FEMALE; GENE DELETION; GENE FREQUENCY; HUMANS; HYDROCORTISONE; INFANT; INFANT, NEWBORN; MALE; MUTATION; SEX DIFFERENTIATION; STEROID 21-HYDROXYLASE;

EID: 0029686629     PISSN: 0100879X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (37)

1. White PC, New MI & Dupont B (1987). Medical progress: Congenital adrenal hyperplasia. New England Journal of Medicine, 316: 1519-1524.
2. Miller WL & Levine LS (1987). Molecular and clinical advances in congenital adrenal hyperplasia. Journal of Pedriatrics, 3: 1-17.
3. Miller WL & Morel Y (1989). The molecular genetics of 21-hydroxylase deficiency. Annual Reviews in Genetics, 23: 371-393.
4. New MI & Speiser PW (1989). Congenital adrenal hyperplasia. In: Book C (Editor), Paedriatric Endrocrinology. Blackwell Scientific Publications, Oxford, 441-462.
5. Higashi Y, Yoshioka H, Yamane M, Gotoh O & Fujii-Kuriyama Y (1986). Complete nucleotide sequence of 2 steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proceedings of the National Academy of Sciences, USA, 83: 2841-2845.
6. Carroll MC, Campbell RD & Porter RR (1985). Mapping the steroid 21-hydroxylase adjacent complement component C4 genes in HLA major histocompatibility complex in man. Proceedings of the National Academy of Sciences, USA, 82: 521-525.
7. White PC, Grossberger D, Onufer BJ, Chaplin DD, New MI, Dupont B & Strominger JL (1985). Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. Proceedings of the National Academy of Sciences, USA, 82, 1089-1093.
8. Hood L, Campbell JH & Elgin SCR (1975). The organization, expression and evolution of antibody genes and other multigene families. Annual Reviews in Genetics, 9: 305-353.
9. Liebhaber SA, Goossens M & Kan YW (1981). Homology and concerted evolution of the α-1 and α-2 loci of human α-globin. Nature, 290: 26-29.
10. Miller WL (1988). Gene conversions, deletions and polymorphisms in congenital adrenal hyperplasia. American Journal of Human Genetics, 42: 4-7.
11. Collier S, Sinnott PJ, Dyer PA, Price DA, Harris R & Strachan T (1989). Pulsed field electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes. EMBO Journal, 8: 1393-1402.
12. Sinnott PJ, Costigan C, Dyer PA, Harris R & Strachan T (1991). Extended MHC haplotypes and CYP21/C4 gene organisation in Irish 21-hydroxylase families. Human Genetics, 87: 361-366.
13. Sinnott PJ, Livieri C, Sampietro M, Marconi M, Harris R, Severi F & Strachan T (1992). CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families. Human Genetics, 88: 545-551.
14. White PC, New MI & Dupont B (1986). Structure of human steroid 21-hydroxylase genes. Proceedings of the National Academy of Sciences, USA, 83: 5111-5115.
15. Paldosttir A, Fossdal R, Arnason A, Edwards JH & Jennson O (1987). Heterogeneity of human C4 gene size. A large intron (6.5 kb) is present in all C4A genes and some C4B genes. Immunogenetics, 25: 299-304.
16. Carroll MC, Paldostir A, Belt KT & Porter RR (1985). Deletion of complement C4 and steroid 21-hydroxylase genes in HLA class III region. EMBO Journal, 4: 2547-2552.
17. Harada F, Kimura A, Iwanaga T, Shimozawa K, Yata J & Sasazuki T (1987). Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia. Proceedings of the National Academy of Sciences, USA, 84: 8091-8094.
18. Mattesen KJ, Phillips JA, Miller WL, Chung BC, Orlando PJ, Frisch H, Ferrandez A & Burr IM (1987). P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia. Proceedings of the National Academy of Sciences, USA, 84: 5858-5862.
19. Morel Y, André J, Uring-Lambert B, Hauptmann G, Bétuel H, Tossi M, Forest MG, David M, Bertrand J & Miller WL (1989). Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia. Journal of Clinical Investigation, 83: 527-536.
20. Partanen J, Koshimies S, Sipilä I & Lipsanen V (1989). Major-histocompatibility-complex gene markers and restriction-fragment analysis of steroid 21-hydroxylase (CYP21) and complement C4 genes in classical congenital adrenal hyperplasia patients in a single population. American Journal of Human Genetics, 44: 660-670.
21. Rumsby G, Fielder AHL, Hague WM & Honour JW (1988). Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency. Journal of Medical Genetics, 25: 596-599.
22. White PC, Vitek A, Dupont B & New MI (1988). Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proceedings of the National Academy of Sciences, USA, 85: 4436-4440.
23. Farah SB, Garmes HM, Cavalcanti DP, De Mello MP, Porelli RN, Ramos CF & Sartorato EL (1991). Use of Y chromosomal DNA probes to evaluate an XX male. Brazilian Journal of Medical and Biological Research, 24: 149-156.
24. Belt KT, Carroll MC & Porter RR (1984). The structural basis of the multiple forms of human complement C4. Cell, 36: 907-914.
25. Sinnott PJ, Dyer PA, Price DA, Harris R & Strachan T (1989). 21-Hydroxylase deficiency families with H LA identical affected and unaffected sibs. Journal of Medical Genetics, 26: 10-17.
26. Feinberg AP & Vogelstein BA (1983). A technique for radiolabeling DNA restriction fragments to high specific activity. Analytical Biochemistry, 132: 6-9.
27. Rigby PWJ, Dieckmann M, Rhodes C & Berg P (1977). Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. Journal of Molecular Biology, 113: 237-240.
28. Donohoue PA, Jospe N, Migeon CJ & Van Dop C (1989). Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B. Genomics, 5: 397-406.
29. Sinnott PJ, Collier S, Costigan C, Dyer PA, Harris R & Strachan T (1990). Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency. Proceedings of the National Academy of Sciences, USA, 87: 2107-2111.
30. Stoner E, DiMartino J, Kuhnle U, Levine LS, Oberfield SE & New MI (1986). Is salt wasting in congenital adrenal hyperplasia due to the same gene as the fasciculata defect? Clinical Endocrinology, 24: 9-20.
31. White PC & New MI (1992). Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical and Endocrinological Metabolism, 74: 6-11.
32. Tusie-Luna M-T, Traktman P & White PC (1990). Determination of functional effects of mutation in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus. Journal of Biological Chemistry, 265: 20916-20922.
33. Tusie-Luna M-T, Speiser PW, Dumic M, New MI & White PC (1991). A mutation (Pro-30 to Leu-30) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allete. Molecular Endocrinology, 5: 685-690.
34. Wu DA & Chung BC (1991). Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively. Journal of Clinical Investigation, 88: 519-523.
35. Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna M-T, Lesser M, New MI & White PC (1992). Disease expression and molecular phenotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical Investigation, 90: 584-595.
36. Mornet E, Crété P, Kuttenn F, Raux-Dernay M-C, Boué J, White PC & Boué A (1991). Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. American Journal of Human Genetics, 48: 79-88.
37. Carrera F, Ferrari M, Beccaro F, Spiga I, Zanussi M, Rigon F, Braggion F, Zacchello F & Greggio N (1993). Molecular characterization of 21-hydroxylase deficiency in 70 Italian families. Human Heredity, 43: 190-196.