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

Clinical Chemistry

Volumn 49, Issue 2, 2003, Pages 319-322

  Lee, Hsien Hsiung ^a   Chang, Shwu Fen ^b   Lee, Yann Jinn ^c,d   Raskin, Salmo ^e   Lin, Shio Jean ^f   Chao, Mei Chyn ^g   Lo, Fu Sung ^h   Lin, Ching Yu ^a  

^a King Car Food Industrial Co Ltd   (Taiwan)

^b TAIPEI MEDICAL UNIVERSITY   (Taiwan)

^c MACKAY MEMORIAL HOSPITAL   (Taiwan)

^d TAIPEI MEDICAL UNIVERSITY   (Taiwan)

^e Genetika Ctro de A e L de G   (Brazil)

^f NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

^g KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^h CHANG GUNG CHILDREN S HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

PRIMER DNA; RESTRICTION ENDONUCLEASE; STEROID 21 MONOOXYGENASE;

ARTICLE; CHIMERA; CHINA; CHINESE; CONGENITAL ADRENAL HYPERPLASIA; DIAGNOSTIC VALUE; ENZYME DEFICIENCY; GENE DELETION; GENE LOCUS; HUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SOUTHERN BLOTTING;

BLOTTING, SOUTHERN; GENE DELETION; HUMANS; RECOMBINATION, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID; STEROID 21-HYDROXYLASE;

EID: 0037306921     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/49.2.319     Document Type: Article

References (20)

1. White PC, Vitek A, Dupont B, New MI. Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proc Natl Acad Sci U S A 1988;85:4436-40.
2. Collier S, Sinnott PJ, Dyer PA, Price DA, Harris R, Strachan T. Pulse 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 1989;8:1393-402.
3. Matteson KJ, Phillips JA III, Miller WL, Chung BC, Orlando PJ, Frisch H, et al. P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia. Proc Natl Acad Sci U S A 1987;84:5858-62.
4. Miller WL. Gene conversions, deletions, and polymorphisms in congenital adrenal hyperplasia. Am J Hum Genet 1988;42:4-7.
5. Morel Y, David M, Forest MG, Betuel H, Hauptman G, Andre J, et al. Gene conversions and rearrangements cause discordance between inheritance of forms of 21-hydroxylase deficiency and HLA types. J Clin Endocrinol 1989;68:592-8.
6. White PC, New MI, Dupont B. HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation. Proc Natl Acad Sci U S A 1984;81:7505-9.
7. Morel Y, Andre J, Uring-Lambert B, Hauptmann G, Betuel H, Tossi M, et al. 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. J Clin Invest 1989;83:527-36.
8. Koppens PFJ, Hoogenboezem T, Degenhart HJ. CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands. Eur Hum Genet 2000;8:827-36.
9. L'allemand D, Tardy V, Gruters A, Schnabel D, Krude H, Morel Y. 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 2000;85:4562-7.
10. Gitelman SE, Bristow J, Miller WL. Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus. Mol Cell Biol 1992;12:3313-4.
11. Bristow J, Tee MK, Gitelman SE, Mellon SH, Miller WL. Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. J Cell Biol 1993;122:265-78.
12. Shen LM, Wu LC, Sanlioglu S, Chen R, Mendoza AR, Dangel A, et al. 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 1994;269:8466-76.
13. Yang Z, Mendoza AR, Welch TR, Zipf WB, Yu CY. 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 deletions and disease associations. J Biol Chem 1999;274:12147-56.
14. Lee HH, Chao HT, Ng HT, Choo KB. Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia. J Med Genet 1996;33:371-5.
15. Yu CY. The complete exon-intron structure of a human complement component C4A gene: DNA sequences, polymorphism, and linkage to the 21-hydroxylase genes. J Immunol 1991;146:1057-66.
16. Lee HH, Niu DM, Lin RW, Chan P, Lin CY. Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency. J Hum Genet 2002;47:517-22.
17. Lee HH, Kuo JM, Chao HT, Lee YJ, Chang JG, Tsai CH, et al. Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Chinese. J. Clin Endocrinol Metab 2000;85:597-600.
18. Yang Z, Shen L, Dangel AW, Wu LC, Yu CY. 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 1998;53:338-47.
19. Smith GR, Kunes SM, Schultz DW, Taylor A, Triman KL. Structure of chi hotspots of generalized recombination. Cell 1981;24:429-36.
20. Jeffreys AJ, Wilson V, Thein SL. Hypervariable 'minisatellite' regions in human DNA. Nature 1985;314:67-73.