The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency

Journal of Human Genetics

Volumn 49, Issue 2, 2004, Pages 65-72

  Lee, Hsien Hsiang ^a  

^a King Car Food Industrial Co Ltd   (Taiwan)

Author keywords

C4 CYP21 repeat module; Chi like sequence; Chimera; CYP21 CAH; Deletion; Minisatellite consensus sequence; RCCX module; Recombination

Indexed keywords

NUCLEOTIDE; PROTEIN KINASE; PROTEIN SERINE THREONINE KINASE; TENASCIN; TENASCIN A; TENASCIN B; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ALLELE; CHIMERA; CHINESE; CONGENITAL ADRENAL HYPERPLASIA; CYP21 GENE; CYP21P GENE; ETHNOLOGY; GENE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RNA SPLICING; SHORT SURVEY; SOUTHERN BLOTTING; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; BASE SEQUENCE; CHINA; CHROMOSOMES, HUMAN, PAIR 6; COMPLEMENT C4B; DNA PRIMERS; ETHNIC GROUPS; HUMANS; PSEUDOGENES; RECOMBINANT FUSION PROTEINS; RECOMBINATION, GENETIC; SEQUENCE DELETION; STEROID 21-HYDROXYLASE;

EID: 1642545469     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-003-0115-2     Document Type: Short Survey

References (46)

1. Bristow J, Tee MK, Gitelman SE, Mellon SH, Miller WL (1993) Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. J Cell Biol 122:265-278
2. Chang SF, Chung Bc (1995) Difference in transcriptional activity of two homologous CYP21A genes. Mol Endocrinol 9:1330-1336
3. Chu X, Braun-Heimer L, Rittner C, Schneider PM (1992) Identification of the recombination site within the steroid 21-hydroxylase gene (CYP21) of the HLA-B47, DR7 haplotype. Exp Clin Immunogenet 9:80-85
4. Collier S, Sinnott PJ, Dyer PA, Price DA, Harris R, Strachan T (1989) Pulsed field gel 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 J 8:1393-1402
5. Day DJ, Speiser PW, White PC, Barany F (1995) Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction. Genomics 29:152-162
6. Day DJ, Speiser PW, Schulze E, Bettendorf M, Fitness J, Barany F, White PC (1996) Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. Hum Mol Genet 5:2039-2048
7. 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
8. Gitelman SE, Bristow J, Miller WL (1992) Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus. Mol Cell Biol 12:2124-2134
9. Helmberg A, Tabarelli M, Fuchs MA, Keller E, Dobler G, Schnegg I, Knorr D, Albert E, Kofler R (1992) Identification of molecular defects causing congenital adrenal hyperplasia by cloning and differential hybridization of polymerase chain reaction-amplified 21-hydroxylase (CYP21) genes. DNA Cell Biol 11:359-368
10. 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
11. Higashi Y, Tanae A, Inoue H, Hiromasa T, Fujii-Kuriyama Y (1988a) 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
12. Higashi Y, Tanae A, Inoue H, Fujii-Kuriyama Y (1988b) 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
13. Human Gene Mutation Database (2003)http://uwcmmlls.uwcm.ac.uk/uwcm/mg/search/120605.html. Cited Oct. 2003
14. Jeffreys AJ, Wilson V, Thein SL (1985) Hypervariable 'minisatellite' regions in human DNA. Nature 314:67-73
15. Koppens PF, Hoogenboezem T, Degenhart HJ (2000) CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands. Eur J Hum Genet 8:827-836
16. Krone N, Roscher AA, Schwarz HP, Braun A (1998) Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency. Clin Chem 44:2075-2082
17. 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 a nonclassic form of 21-hydroxylase deficiency. J Clin Endocrinol Metab 85:4562-4567
18. Lee HH (2001) CYP21 mutations and congenital adrenal hyperplasia. Clin Genet 59:293-301
19. Lee HH, Chang SF (2001) Multiple transcripts of the CYP21 gene are generated by the mutation of the splicing donor site in intron 2 from GT to AT in 21-hydroxylase deficiency. J Endocrinol 171:397-402
20. Lee HH, Chao HT, Ng HT, Choo KB (1996) Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia. J Med Genet 33:371-375
21. Lee HH, Chao HT, Lee YJ, Shu SG, Chao MC, Kuo JM, Chung Bc (1998) Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese. Hum Genet 103:304-310
22. Lee HH, Chang JG, Tsai CH, Tsai FJ, Chao HT, Chung Bc (2000) Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency. Clin Chem 46:606-611
23. Lee HH, Niu DM, Lin RW, Chan P, Lin CY (2002) Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency. J Hum Genet 47:517-522
24. Lee HH, Chang SF, Lee YJ, Raskin S, Lin SJ, Chao MC, Lo FS, Lin CY (2003a) Deletion of the C4-CYP21 repeat module leading to the formation of a chimeric CYP21P/CYP21 gene in a 9.3-kb fragment as a cause of steroid 21-hydroxylase deficiency. Clin Chem 49:319-322
25. Lee HH, Chang SF, Tsai FJ, Tsai LP, Lin CY (2003b) Mutation of IVS2-12 A/C- > G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab 88:2726-2729
26. Levo A, Partanen J (1997) Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles. Hum Genet 99:488-497
27. Miller WL (1988) Gene conversions, deletions, and polymorphisms in congenital adrenal hyperplasia. Am J Hum Genet 42:4-7
28. Morel Y, David M, Forest MG, Betuel H, Hauptman G, Andre J, Bertrand J, Miller WL (1989) Gene conversions and rearrangements cause discordance between inheritance of forms of 21-hydroxylase deficiency and HLA types. J Clin Endocrinol Metab 68:592-599
29. Ohlsson G, Muller J, Schwartz M (1999) Genetic diagnosis of 21-hydroxylase deficiency: DGGE-based mutation scanning of CYP21. Hum Mutat 13:385-389
30. Ordonez-Sanchez ML, Ramirez-Jimenez S, Lopez-Gutierrez AU, Riba L, Gamboa-Cardiel S, Cerrillo-Hinojosa M, Altamirano-Bustamante N, Calzada-Leon R, Robles-Valdes C, Mendoza-Morfin F, Tusie-Luna MT (1998) Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of the apparent germ-line mutations. Hum Genet 102:170-177
31. Schulze E, Bettendorf M, Maser-Gluth C, Decker M, Schwabe U (1998) Allele-dropout using PCR-based diagnosis for the splicing mutation in intron-2 of the CYP21B-gene: successful amplification with a Taq/Pwo-polymerase mixture. Endocr Res 24:637-641
32. Shen L, Wu LC, Sanlioglu S, Chen R, Mendoza AR, Dangel AW, Carroll MC, Zipf WB, Yu CY (1994) Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composition retroposon, and breakpoint of gene duplication. J Biol Chem 269:8466-8476
33. Sinnott P, 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. Proc Natl Acad Sci USA 87:2107-2111
34. Smith GR, Kunes SM, Schultz DW, Taylor A, Triman KL (1981) Structure of chi hotspots of generalized recombination. Cell 24:429-436
35. Speiser PW, White PC, Dupont J, Zhu D, Mercado AB, New MI (1994) Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and southern blot. Hum Genet 93:424-428
36. Tajima T, Fujieda K, Nakayama K, Fujii-Kuriyama Y (1993) Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism. J Clin Invest 92:2182-2190
37. Tusie-Luna MT, White PC (1995) Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms. Proc Natl Acad Sci USA 92:10796-10800
38. Urabe K, Kimura A, Harada F, Iwanaga T, Sasazuki T (1990) Gene conversion in steroid 21-hydroxylase genes. Am J Hum Genet 46:1178-1186
39. White PC, New MI, Dupont B (1984) HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation. Proc Natl Acad Sci USA 81:7505-7509
40. White PC, New MI, Dupont B (1986) Structure of human steroid 21-hydroxylase genes. Proc Natl Acad Sci USA 83:5111-5115
41. White PC, Vitek A, Dupont B, New MI (1988) Characterization of frequent deletions causing steroid 21-hydrxylase deficiency. Proc Natl Acad Sci USA 85:4436-4440
42. White PC, Speiser PW (2000) Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 21:245-291
43. Yang Z, Shen L, Dangel AW, Wu LC, Yu CY (1998) Four ubiquitously expressed genes, RD (D6S45)-SK12W-(SKIV2L)-DOM3Z-RP1(D6S60E), are present between complement component genes factor B and C4 in the class III region of the HLA. Genomics 53:338-347
44. Yang Z, Mendoza AR, Welch TR, Zipf WB, Yu CY (1999) Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletion and disease associations. J Biol Chem 274:12147-12156
45. Yang YP, Corley N, Garcia-Heras J (2001) Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Mol Diagn 6:193-199
46. Yu CY (1991) The complete exon-intron structure of a human complement component C4A gene. DNA sequences, polymorphism, and linkage to the 21-hydroxylase genes. J Immunol 146:1057-1066