Cited by 182Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

The DOI matches its Crossref record; 45 of the 48 references it cites were found in a registry or an index.

Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia

Open access

Rodrigues, N. R., Dunham, I., Yu, C. Y., Carroll, M. C., Porter, R. R., Campbell, R. D.·1987·The EMBO Journal

DOI 10.1002/j.1460-2075.1987.tb02414.xPMC PMC553538

Open this paper in CoChat — free account Open PDF

Abstract

21-Hydroxylase deficiency which causes congenital adrenal hyperplasia is one of the most common defects of adrenal steroidogenesis. There are two 21-hydroxylase genes in man, A and B, and these have been mapped to the HLA class III region. Only the 21-hydroxylase B gene is thought to be active. To understand the molecular basis of congenital adrenal hyperplasia in a patient with the salt-wasting form of the disease, we cloned and characterized his single 21-hydroxylase B gene. The nucleotide sequence of this gene and a 21-hydroxylase B gene from a normal individual have been determined. Comparison of the two sequences has revealed 11 nucleotide alterations, of which two are in the 5' flanking region, four are in introns, one is in the 3' untranslated region and four are in exons. Two of the differences in exons cause codon changes, with Ser-269 and Asn-494 in the normal 21-hydroxylase B gene being converted to Thr and Ser, respectively. These amino acid substitutions may give an insight into those residues necessary for 21-hydroxylase enzymatic activity. We have also confirmed that the 21-hydroxylase A gene is a pseudogene due to three deleterious mutations in the exons. In addition, comparison of the 21-hydroxylase B gene sequence with other published sequences indicates that this microsomal cytochrome P-450 may be polymorphic.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1002/j.1460-2075.1987.tb02414.x

Cites

45 of 45 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

DNA sequencing with chain-terminating inhibitors
Sanger, F., Nicklen, S., & Coulson, A. R. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.12.5463 · Cited by 68,572
Detection of specific sequences among DNA fragments separated by gel electrophoresis
Southern, E. M. (1975) · Journal of Molecular Biology · doi:10.1016/s0022-2836(75)80083-0 · Cited by 32,245
Molecular Cloning. A Laboratory Manual
Wood, E. (1983) · Biochemical Education · doi:10.1016/0307-4412(83)90068-7 · Cited by 29,534
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
Feinberg, A. P., & Vogelstein, B. (1983) · Analytical Biochemistry · doi:10.1016/0003-2697(83)90418-9 · Cited by 24,512
A rapid alkaline extraction procedure for screening recombinant plasmid DNA
Birnboim, H. C., & Doly, J. (1979) · Nucleic Acids Research · doi:10.1093/nar/7.6.1513 · Cited by 14,686
[57] Sequencing end-labeled DNA with base-specific chemical cleavages
Maxam, A. M., & Gilbert, W. (1980) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(80)65059-9 · Cited by 13,943
Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I
Rigby, P. W. J., Dieckmann, M., Rhodes, C., & Berg, P. R. (1977) · Journal of Molecular Biology · doi:10.1016/0022-2836(77)90052-3 · Cited by 11,400
Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridization by using dextran sulfate.
Wahl, G. M., Stern, M., & Stark, G. R. (1979) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.76.8.3683 · Cited by 3,159
A new pair of M13 vectors for selecting either DNA strand of double-digest restriction fragments
Messing, J. W., & Vieira, J. (1982) · Gene · doi:10.1016/0378-1119(82)90016-6 · Cited by 2,833
Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination.
Biggin, M. D., Gibson, T. J., & Hong, G. F. (1983) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.80.13.3963 · Cited by 2,320

Show all 48 references

Research works printed but not linked: 18

[2]2. Bell,G.I., Karam,J.H. and Rutter,W.J. (1981) Proc. Natl. Acad. Sci. USA, 78, 5759-5763.
[5]5. Biggin,M.D., Gibson,T.J. and Hong,G.F. (1983) Proc. Natl. Acad. Sci. USA, 80, 3963-3965.
[7]7. Carroll,M.C., Belt,K.T., Palsdottir,A. and Porter,R.R. (1984a) Phil. Trans. Soc. Lond., B., 306, 379-388.
[9]9. Carroll,M.C., Campbell,R.D. and Porter,R.R. (1985a) Proc. Natl. Acad. Sci. USA, 82, 521-525.
[11]11. Chaplin,D.D., Galbraith,L.J., Seidman,J.G., White,P.C. and Parker,K.L. (1986) Proc. Natl. Acad. Sci. USA, 83, 9601-9605.
[12]12. Chung,B., Matteson,K.J. and Miller,W.L. (1985) Proc. Natl. Acad. Sci. USA, 83, 4243-4247.
[16]16. Dupont,B., Pollack,M.S., Levine,L.S., O'Neill,G.J., Hawkins,B.R. and New, M.I. (1980) In Terasaki,P.I. (ed.), Histocompatibility Testing. UCLA Press, pp. 693-706.
[20]20. Giles,C.M. (1987) Human Immunol., in press.
[23]23. Higashi,Y., Yoshioka,H., Yamane,M., Gotoh,O. and Fujii-Kuriyama,Y. (1986) Proc. Natl. Acad. Sci. USA, 83, 2841-2845.
[28]28. Morohashi,K., Fujii-Kuriyama,Y., Okada,Y., Sogawa,K., Hirose,T., Inayama,S. and Omura,T. (1984) Proc. Natl. Acad. Sci. USA, 81, 4647-4651.
[30]30. New,M.I., Dupont,B., Grumback,K. and Levine,L.S. (1982) In Stanbury,J.B., Wyngarden,J.B., Fredrickson,D.S., Goldstein,J.L. and Brown,M.S. (eds), Metabolic Basis of Inherited Disease. McGraw-Hill, New York, pp. 973- 1000. 14602075, 1987, 6, Downloaded from https://www.embopress.org/doi/10.1002/j.1460-2075.1987.tb02414.x by Readcube (Labtiva Inc.), Wiley Online Library on [14/08/2023]. See the Terms and Conditions (https://onlinelibrary.wiley.com/terms-and-conditions) on Wiley Online Library for rules of use; OA articles are governed by the applicable Creative Commons License
[36]36. Sanger,F., Nicklen,S. and Coulson,A.R. (1977) Proc. Natl. Acad. Sci. USA, 74, 5463-5468.
[40]40. Wahl,G.M., Stern,M. and Stark,G.R. (1979) Proc. Natl. Acad. Sci. USA, 76, 3686-3687.
[42]42. White,P.C., New,M.I. and Dupont,B. (1984a) Proc. Natl. Acad. Sci. USA, 81, 7505-7509.
[43]43. White,P.C., New,M.I. and Dupont,B. (1984b) Proc. Natl. Acad. Sci. USA, 81, 1986-1990.
[44]44. White,P.C., Grossberg,D., Onufer,B.J., Chaplin,D.D. and New,M.I. (1985) Proc. Natl. Acad. Sci. USA, 82, 1089-1093.
[45]45. White,P.C., New,M.I. and Dupont,B. (1986) Proc. Natl. Acad. Sci. USA, 83, 5111-5115.
[47]47. Yu,C.Y. and Campbell,R.D. (1987) Immunogenetics, in press.

Sorted by citations

The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Miller, W. L., & Auchus, R. J. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0013 · Cited by 2,458
Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones
Payne, A. H., & Hales, D. B. (2004) · Endocrine Reviews · doi:10.1210/er.2003-0030 · Cited by 1,766
“The human CYP21A gene has an eight-base deletion, a one-base insertion, and a transition mutation that most likely results in the premature termination of translation (116, 117, 121).”
Background
The P450 Superfamily: Update on New Sequences, Gene Mapping, Accession Numbers, Early Trivial Names of Enzymes, and Nomenclature
Nelson, D. R., Kamataki, T., Waxman, D. J., Guengerich, F. P., Estabrook, R. W., Feyereisen, R., Gonzalez, F. J., Coon, M. J., GUNSALUS, I. C., Gotoh, O., et al. (1993) · DNA and Cell Biology · doi:10.1089/dna.1993.12.1 · Cited by 1,647
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency*
White, P. C., & Speiser, P. W. (2000) · Endocrine Reviews · doi:10.1210/edrv.21.3.0398 · Cited by 1,432
“Human CYP21 normally contains 494 amino acid residues (343, 344) [a normal variant has an extra leucine within the N-terminal hydrophobic domain and thus contains 495 residues (345)] and has a molecular mass of approximately 52 kDa.”
Background
Molecular biology of steroid hormone synthesis
MILLER, W. L. (1988) · Endocrine Reviews · doi:10.1210/edrv-9-3-295 · Cited by 1,397
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.
Cotton, R. G. H., Rodrigues, N. R., & Campbell, R. D. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.12.4397 · Cited by 620
Self-citation
Molecular genetics of the P-450 superfamily
Gonzalez, F. J. (1990) · Pharmacology & Therapeutics · doi:10.1016/0163-7258(90)90006-n · Cited by 487
17α-Hydroxylase/17,20 lyase deficiency: from clinical investigation to molecular definition
YANASE, T., SIMPSON, E. R., & WATERMAN, M. R. (1991) · Endocrine Reviews · doi:10.1210/edrv-12-1-91 · Cited by 390
Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus.
Tusie-Luna, M. T., Traktman, P., & White, P. C. (1990) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)45304-x · Cited by 254
Mutation in the CYP21B gene (Ile-172-Asn) causes steroid 21-hydroxylase deficiency
Amor, M., Parker, K. L., Globerman, H., New, M. I., & White, P. C. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.5.1600 · Cited by 251
Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products
Higashi, Y., Tanae, A., Inoue, H., Hiromasa, T., & Fujii-Kuriyama, Y. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.20.7486 · Cited by 244
Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis.
Dunham, I., Sargent, C. A., Trowsdale, J., & Campbell, R. D. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.20.7237 · Cited by 233
Self-citation
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency
White, P. C., Vitek, A., Dupont, B., & New, M. I. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.12.4436 · Cited by 229
Molecular Genetic Analysis of Nonclassic Steroid 21-Hydroxylase Deficiency Associated with HLA-B14,DR1
Speiser, P. W., New, M. I., & White, P. C. (1988) · New England Journal of Medicine · doi:10.1056/nejm198807073190104 · Cited by 205
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, composite retroposon, and breakpoint of gene duplication.
Shen, L., Wu, L., Şanlıoğlu, S., Chen, R., Mendoza, A. R., Dangel, A. W., Carroll, M. C., Zipf, W. B., & Yu, C. Y. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)37217-4 · Cited by 198
Self-citation
Deficiencies of Human Complement Component C4a and C4b and Heterozygosity in Length Variants of RP-C4-CYP21-TNX(Rccx) Modules in Caucasians
Blanchong, C. A., Zhou, B., Rupert, K. L., Chung, E. K., Jones, K. N., Sotos, J. F., Zipf, W. B., Rennebohm, R. M., & Yu, C. Y. (2000) · The Journal of Experimental Medicine · doi:10.1084/jem.191.12.2183 · Cited by 187
Self-citation
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)
Yang, Z., Mendoza, A. R., Welch, T. R., Zipf, W. B., & Yu, C. Y. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.17.12147 · Cited by 184
Self-citation
A Mutation (Pro-30 to Leu) in CYP 21 Represents a Potential Nonclassic Steroid 21-Hydroxylase Deficiency Allele
Tusie-Luna, M.-T., Speiser, P. W., Dumic, M., New, M. I., & White, P. C. (1991) · Molecular Endocrinology · doi:10.1210/mend-5-5-685 · Cited by 183
An update of congenital adrenal hyperplasia
NEW, M. I. (2004) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1315.009 · Cited by 178
Structure, Organization, And Regulation Of The Complement Genes
Campbell, R. D., Law, S. K. A., Reid, K. B. M., & Sim, R. B. (1988) · Annual Review of Immunology · doi:10.1146/annurev.iy.06.040188.001113 · Cited by 177
Self-citation
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder
Pang, S., Clark, A. C., Neto, E. C., Giugliani, R., Dean, H., Winter, J., Dhondt, J., Farriaux, J. P., Graters, A., CACCIARI, E., et al. (1993) · Screening · doi:10.1016/0925-6164(93)90024-d · Cited by 163
Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Morel, Y., & Miller, W. L. (1991) · Advances in Human Genetics · doi:10.1007/978-1-4684-5958-6_1 · Cited by 158
Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations
Wedell, A., Ritzén, E. M., Haglund-Stengler, B., & Luthman, H. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.15.7232 · Cited by 150
A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
Chiou, S. H., Hu, M. C., & Chung, B. C. (1990) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)39804-7 · Cited by 149
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
Morel, Y., André, J., Uring-Lambert, B., Hauptmann, G., Bétuel, H., Tossi, M., Forest, M. G., David, M., Bertrand, J., & Miller, W. L. (1989) · Journal of Clinical Investigation · doi:10.1172/jci113914 · Cited by 134
Nonsense mutation causing steroid 21-hydroxylase deficiency
Globerman, H., Amor, M., Parker, K. L., New, M. I., & White, P. C. (1988) · Journal of Clinical Investigation · doi:10.1172/jci113562 · Cited by 130
Mutations in steroid 21-hydroxylase (CYP21)
White, P. C., Tusie-Luna, M.-T., New, M. I., & Speiser, P. W. (1994) · Human Mutation · doi:10.1002/humu.1380030408 · Cited by 129
R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.
Helmberg, A., Tusie-Luna, M. T., Tabarelli, M., Kofler, R., & White, P. C. (1992) · Molecular Endocrinology · doi:10.1210/mend.6.8.1406709 · Cited by 123
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.
Collier, S., Sinnott, P. J., Dyer, P. A., Price, D. A., Harris, R., & Strachan, T. (1989) · The EMBO Journal · doi:10.1002/j.1460-2075.1989.tb03520.x · Cited by 114
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
Baumgartner-Parzer, S., Witsch-Baumgartner, M., & Hoeppner, W. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-0653-5 · Cited by 110
Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus
Gitelman, S. E., Bristow, J., & Miller, W. L. (1992) · Molecular and Cellular Biology · doi:10.1128/mcb.12.5.2124 · Cited by 106
Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.
Lee, H. H., Chao, H.-T., Ng, H., & Choo, K. (1996) · Journal of Medical Genetics · doi:10.1136/jmg.33.5.371 · Cited by 102
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants
Simonetti, L., Bruque, C. D., Fernández, C. S., Benavides-Mori, B., Delea, M., Kolomenski, J. E., Espeche, L. D., Buzzalino, N. D., Nadra, A. D., & Dain, L. (2018) · Human Mutation · doi:10.1002/humu.23351 · Cited by 122
“g.32039109G>A c.308G>A p.R103K Normal 119.7± 22.5 ND Rodrigues et al., 1987; Brønsta et al., 2014 g.32039198C> T c.397C> T p.R133C NC 35.40± 7.4 15.5± 2.7 0 Minutolo et al., 2011; Taboas et al., 2014 g.32039220T>A c.419T>A p.V140E SW 0.7± 1.3 0.5± 0.6 Barbaro et al., 2012; Robins et al., 2006…”
Influential
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia
Dolž;an, V, Sólyom, J., Fekete, G., Kovács, J., Rakosnikova, V, Votava, F., Lebl, J., Pribilincova, Z., Baumgartner-Parzer, S., Riedl, S., et al. (2005) · European Journal of Endocrinology · doi:10.1530/eje.1.01944 · Cited by 96
Deletion of a phenylalanine in the N-terminal region of human cytochrome P-45017α results in partial combined 17α-hydroxylase/17,20-lyase deficiency
Yanase, T., Kagimoto, M., Suzuki, S., Hashiba, K., Simpson, E. R., & Waterman, M. R. (1989) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)84680-x · Cited by 96
Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase
Pallan, P. S., Wang, C., Li, L., Yoshimoto, F. K., Auchus, R. J., Waterman, M. R., Guengerich, F. P., & Egli, M. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m115.646307 · Cited by 91
Regulation of Steroid Hydroxylase Gene Expression Is Multifactorial in Nature
Waterman, M. R., & Simpson, E. R. (1989) · Elsevier eBooks · doi:10.1016/b978-0-12-571145-6.50016-9 · Cited by 86
Molecular Model of Human CYP21 Based on Mammalian CYP2C5: Structural Features Correlate with Clinical Severity of Mutations Causing Congenital Adrenal Hyperplasia
Robins, T., Carlsson, J., Sunnerhagen, M., Wedell, A., & Persson, B. (2006) · Molecular Endocrinology · doi:10.1210/me.2006-0172 · Cited by 88
A de novo pathological point mutation at the 21–hydroxylase locus: implications for gene conversion in the human genome
Collier, S., Tassabehji, M., & Strachan, T. (1993) · Nature Genetics · doi:10.1038/ng0393-260 · Cited by 82
Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene
Wedell, A., & Luthman, H. (1993) · Human Genetics · doi:10.1007/bf00218263 · Cited by 81
Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.
Wu, D. A., & Chung, B. C. (1991) · Journal of Clinical Investigation · doi:10.1172/jci115334 · Cited by 80
Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism.
Tajima, T., Fujieda, K., Nakayama, K. I., & Fujii-Kuriyama, Y. (1993) · Journal of Clinical Investigation · doi:10.1172/jci116820 · Cited by 78
Direct Analysis of CYP21B Genes in 21-Hydroxylase Deficiency using Polymerase Chain Reaction Amplification
Owerbach, D., Crawford, Y. M., & Draznin, M. B. (1990) · Molecular Endocrinology · doi:10.1210/mend-4-1-125 · Cited by 74
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency
Barbat, B., Bogyo, A., Raux-Demay, M.-C., Kuttenn, F., Boué, J., Simon-Bouy, B., Serre, J.-L., Boué, A., & Mornet, E. (1995) · Human Mutation · doi:10.1002/humu.1380050205 · Cited by 68
Molecular Genetics of the Human MHC Complement Gene Cluster
Yu, C. Y. (1998) · Experimental and Clinical Immunogenetics · doi:10.1159/000019075 · Cited by 67
Self-citation
The Molecular Basis of Complete Complement C4A and C4B Deficiencies in a Systemic Lupus Erythematosus Patient with Homozygous C4A and C4B Mutant Genes
Rupert, K. L., Moulds, J. M., Yang, Y., Arnett, F. C., Warren, R. W., Reveille, J. D., Myones, B. L., Blanchong, C. A., & Yu, C. Y. (2002) · The Journal of Immunology · doi:10.4049/jimmunol.169.3.1570 · Cited by 63
Self-citation
Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome
Miller, W. L., & Merke, D. P. (2018) · Hormone Research in Paediatrics · doi:10.1159/000481911 · Cited by 61
Chemical reactivity of matched cytosine and thymine bases near mismatched and unmatched bases in a heteroduplex between DNA strands with multiple differences
Cotton, R. G. H., & Campbell, R. D. (1989) · Nucleic Acids Research · doi:10.1093/nar/17.11.4223 · Cited by 60
Self-citation
COMPLEXITY IN THE MAJOR HISTOCOMPATIBILITY COMPLEX
Trowsdale, J., & Campbell, R. D. (1992) · International Journal of Immunogenetics · doi:10.1111/j.1744-313x.1992.tb00047.x · Cited by 58
Self-citation
What does acne genetics teach us about disease pathogenesis?
Common, J., Barker, J. N., & Steensel, M. A. M. V. (2019) · British Journal of Dermatology · doi:10.1111/bjd.17721 · Cited by 58
Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency
Wedell, A., Haglund-Stengler, B., & Luthman, H. (1994) · Human Genetics · doi:10.1007/bf02272841 · Cited by 57
Transcriptional regulatory elements of the human gene for cytochrome P450c21 (steroid 21-hydroxylase) lie within intron 35 of the linked C4B gene
Wijesuriya, S. D., Zhang, G., Dardis, A., & Miller, W. L. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.53.38097 · Cited by 54
Gene conversion in steroid 21-hydroxylase genes.
(1990) · Europe PMC (PubMed Central) · Cited by 55
The Adrenal Cortex and its Disorders
Miller, W. L. (2009) · Wiley eBooks · doi:10.1002/9781444316728.ch13 · Cited by 51
Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B
Donohoue, P. A., Jospe, N., Migeon, C. J., & Dop, C. V. (1989) · Genomics · doi:10.1016/0888-7543(89)90002-5 · Cited by 50
CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions
Friães, A., Rêgo, A. T., Aragüés, J. M., Moura, L. F., Mirante, A., Mascarenhas, M. R., Kay, T. T., Lopes, L. A., Rodrigues, J. C., Guerra, S., et al. (2006) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2005.11.015 · Cited by 63
The major histocompatibility complex influences the development of chronic liver disease in male children and young adults with cystic fibrosis
Duthie, A., Doherty, D. G., Donaldson, P. T., Scott-Jupp, R. H., Tanner, M. S., Eddleston, A. W. F., & Mowat, A. P. (1995) · Journal of Hepatology · doi:10.1016/0168-8278(95)80058-1 · Cited by 49
Polymorphism in the Human Complement C4 Genes and Genetic Susceptibility to Autoimmune Hepatitis
Doherty, D. G., Underhill, J. A., Donaldson, P. T., Manabe, K., Mieli‐Vergani, G., Eddleston, A. L. W. F., Vergani, D., Demaine, A. G., & Williams, R. L. (1994) · Autoimmunity · doi:10.3109/08916939409009525 · Cited by 49
Great genotypic and phenotypic diversities associated with copy-number variations of complement C4 and RP-C4-CYP21-TNX (RCCX) modules: A comparison of Asian-Indian and European American populations
Saxena, K., Kitzmiller, K. J., Wu, Y. L., Zhou, B., Esack, N., Hiremath, L., Chung, E. K., Yang, Y., & Yu, C. Y. (2009) · Molecular Immunology · doi:10.1016/j.molimm.2008.11.018 · Cited by 47
Self-citation
Combined 17α-Hydroxylase/17,20-Lyase Deficiency due to a 7-Basepair Duplication in the N-Terminal Region of the Cytochrome P45017α(CYP17) Gene*
Yanase, T., Sanders, D., Shibata, A., Matsui, N., Simpson, E. R., & Waterman, M. R. (1990) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-70-5-1325 · Cited by 47
Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency
Asanuma, A., Ohura, T., Ogawa, E., Sato, S., Igarashi, Y., Matsubara, Y., & Iinuma, K. (1999) · Journal of Human Genetics · doi:10.1007/s100380050167 · Cited by 45
“Rodrigues et al. (1987) also reported a patient in whom a hemizygous N493S mutation was combined with the S268T mutation.”
Background
Expression of Human 21-Hydroxylase (P450c21) in Bacterial and Mammalian Cells: A System to Characterize Normal and Mutant Enzymes
Hu, M.-C., & Chung, B.-C. (1990) · Molecular Endocrinology · doi:10.1210/mend-4-6-893 · Cited by 43
“Different mutations in the c21 gene have been identified in 21-hydroxylase deficiency, including gene deletion (9), missense mutations (10-13), nonsense mutation (14), and splicing errors (15).”
Background
Gene conversions and rearrangements cause discordance between inheritance of forms of 21-hydroxylase deficiency and HLA types
MOREL, Y., DAVID, M., FOREST, M. G., BETUEL, H., HAUPTMAN, G., ANDRE, J., BERTRAND, J., & MILLER, W. L. (1989) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-68-3-592 · Cited by 43
Use of PCR-Based Amplification Analysis as a Substitute for the Southern Blot Method for CYP21 Deletion Detection in Congenital Adrenal Hyperplasia
Lee, H.-H., Lee, Y., Chan, P., & Lin, C.-Y. (2004) · Clinical Chemistry · doi:10.1373/clinchem.2003.028597 · Cited by 40
“AL0495470 and AF019413) and past studies (16, 17), these two primers are specific for these two loci, and no polymorphic site exists.”
Background
Direct observation of the gene organization of the complement C4 and 21-hydroxylase loci by pulsed field gel electrophoresis.
Dunham, I., Sargent, C. A., Dawkins, R. L., & Campbell, R. D. (1989) · The Journal of Experimental Medicine · doi:10.1084/jem.169.5.1803 · Cited by 41
Self-citation
Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia
Ferenczi, A., Garami, M., Kiss, E., Pék, M., Sasvári‐Székely, M., Barta, C., Staub, M., Sólyom, J., & Fekete, G. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.7.5835 · Cited by 42
A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations
Mornet, E., & Gibrat, J.-F. (2000) · Human Genetics · doi:10.1007/s004390051046 · Cited by 38
DNA damage and mutation. Types of DNA damage
Chakarov, S., Ohridsky", S. K., Petkova, R., Service, S. T., Russev, G. C., & Zhelev, N. (2014) · Biodiscovery · doi:10.7750/biodiscovery.2014.11.1 · Cited by 33
Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.
López-Gutierrez, A. U., Riba, L., Ordóñez-Sánchez, M. L., Ramı́rez-Jiménez, S., Cerrillo-Hinojosa, M., & Tusié-Luna, M. T. (1998) · Journal of Medical Genetics · doi:10.1136/jmg.35.12.1014 · Cited by 33
Survival of steroid 21-hydroxylase-deficient mice without endogenous corticosteroids after neonatal treatment and genetic rescue by transgenesis as a model system for treatment of congenital adrenal hyperplasia in humans
Gotoh, H., Kusakabe, M., Shiroishi, T., & Moriwaki, K. (1994) · Endocrinology · doi:10.1210/endo.135.4.7925109 · Cited by 33
An Unequal Crossover between the RCCX Modules of the Human MHC Leading to the Presence of a CYP21B Gene and a Tenascin TNXB/TNXA-RP2 Recombinant between C4A and C4B Genes in a Patient with Juvenile Rheumatoid Arthritis
Rupert, K. L., Rennebohm, R. M., & Yu, C. Y. (1999) · Experimental and Clinical Immunogenetics · doi:10.1159/000019099 · Cited by 33
Self-citation
Mutation Analysis in Patients with Congenital Adrenal Hyperplasia in the Spanish Population: Identification of Putative Novel Steroid 21-Hydroxylase Deficiency Alleles Associated with the Classic Form of the Disease
Lobato, M. N., Ordóñez-Sánchez, M. L., Tusié-Luna, M. T., & Meseguer, A. (1999) · Human Heredity · doi:10.1159/000022866 · Cited by 30
MOLECULAR PATHOLOGY OF CONGENITAL ADRENAL HYPERPLASIA
Strachan, T. (1990) · Clinical Endocrinology · doi:10.1111/j.1365-2265.1990.tb00878.x · Cited by 31
Molecular Analysis of CYP-21 Mutations for Congenital Adrenal Hyperplasia in Singapore
Loke, K. Y., Lee, Y. S., Lee, W. W. R., & Poh, L. K. S. (2001) · Hormone Research in Paediatrics · doi:10.1159/000049992 · Cited by 29
Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency
Lee, H.-H., Niu, D., Lin, R.-W., Chan, P., & Lin, C.-Y. (2002) · Journal of Human Genetics · doi:10.1007/s100380200077 · Cited by 29
“On the other hand, gross gene deletions (Caroll et al. 1985; Rodrigues et al. 1987; White et al. 1988; Speiser et al. 1991) encompassing the C4A and CYP21 genes as a result of a 30-kb deletion by unequal crossover in meiosis have been reported to occur in 20%–30% of alleles in most populations…”
Background
Mechanism and Consequences of the Duplication of the Human C4/P450c21/Gene X Locus
Gitelman, S. E., Bristow, J. D., & Miller, W. L. (1992) · Molecular and Cellular Biology · doi:10.1128/mcb.12.5.2124-2134.1992 · Cited by 29
“Studies with bovine (12, 13, 61), murine (2, 38), and human (8, 21, 46, 58) DNAs show that the C4/P450c21 locus was duplicated in three different mammalian families (ungulates, rodents, and primates), suggesting that the locus duplicated before mammalian speciation.”
21-Hydroxylase deficiency families with HLA identical affected and unaffected sibs
Sinnott, P. J., Dyer, P. A., Price, D. A., Harris, R., & Strachan, T. (1989) · Journal of Medical Genetics · doi:10.1136/jmg.26.1.10 · Cited by 27
The Adrenal Cortex and Its Disorders
Miller, W. L., Achermann, J. C., & Flück, C. E. (2008) · Elsevier eBooks · doi:10.1016/b978-141604090-3.50017-x · Cited by 28
Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency: Its Molecular Basis and Its Remaining Therapeutic Problems
Migeon, C. J., & Donohoue, P. A. (1991) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(18)30269-x · Cited by 27
Evolutionary origin of mutations in the primate cytochrome P450c21 gene.
Kawaguchi, H., O'hUigin, C., & Klein, J. (1992) · Europe PMC (PubMed Central) · Cited by 27
The Expression of the Avian Clusterin Gene can be Driven by two Alternative Promoters with Distinct Regulatory Elements
Michel, D., Chatelain, G., Hérault, Y., & Brun, G. (1995) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1995.0215l.x · Cited by 26
Restoration of fertility by gonadotropin replacement in a man with hypogonadotropic azoospermia and testicular adrenal rest tumors due to untreated simple virilizing congenital adrenal hyperplasia
Rohayem, J., Tüttelmann, F., Mallidis, C., Nieschlag, E., Kliesch, S., & Zitzmann, M. (2014) · European Journal of Endocrinology · doi:10.1530/eje-13-0449 · Cited by 26
Intronic polymorphisms of cytochromes P450
Ingelman‐Sundberg, M., & Sim, S. C. (2010) · Human Genomics · doi:10.1186/1479-7364-4-6-402 · Cited by 26
Evolution of Primate C4 and CYP21 Genes
Kawaguchi, H., Ó’hUigín, C., & Klein, J. (1991) · Springer eBooks · doi:10.1007/978-3-642-84622-9_30 · Cited by 27
Molecular Defects of the CYP21A2 Gene in Greek-Cypriot Patients with Congenital Adrenal Hyperplasia
Skordis, N., Kyriakou, A., Tardy, V., Ioannou, Y. S., Varvaresou, A., Dracopoulou, M., Patsalis, P. C., Shammas, C., Neocleous, V., & Phylactou, L. A. (2010) · Hormone Research in Paediatrics · doi:10.1159/000320040 · Cited by 25
Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations
Skordis, N., Neocleous, V., Shammas, C., Phedonos, A., & Phylactou, L. (2014) · Indian Journal of Endocrinology and Metabolism · doi:10.4103/2230-8210.145077 · Cited by 25
“Asn493Ser substitution.[41] The presence of elevated basal and ACTH-stimulated 17-OHP, PA, hyperandrogenism, and PCOS in the female patients of the present study identifi ed in heterozygosity or homozygosity only with p.”
Congenital adrenal hyperplasia
Demirci, C., & Witchel, S. F. (2008) · Dermatologic Therapy · doi:10.1111/j.1529-8019.2008.00216.x · Cited by 22
Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia
Ferenczi, A. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.84.7.2369 · Cited by 23
Sequence Analysis of CYP21A1P in a German Population to Aid in the Molecular Biological Diagnosis of Congenital Adrenal Hyperplasia
Cantürk, C., Baade, U., Salazar, R., Storm, N., Pörtner, R., & Höppner, W. (2010) · Clinical Chemistry · doi:10.1373/clinchem.2010.156893 · Cited by 22
6 Molecular genetics of congenital adrenal hyperplasia
White, P. C., & New, M. I. (1988) · Baillière s Clinical Endocrinology and Metabolism · doi:10.1016/s0950-351x(88)80025-9 · Cited by 22
Steroid 21‐hydroxylase gene polymorphism in Addison's disease patients
Peterson, P., Partanen, J., Aavik, E., Salmi, H., Pelkonen, R., & Krohn, K. J. E. (1995) · Tissue Antigens · doi:10.1111/j.1399-0039.1995.tb02478.x · Cited by 22
Analysis of Mutations Causing Steroid 21-hydroxylase Deficiency
White, P. C. (1989) · Endocrine Research · doi:10.1080/07435808909039099 · Cited by 22
The -104G nucleotide of the human CYP21 gene is important for CYP21 transcription activity and protein interaction
Chin, K. (1998) · Nucleic Acids Research · doi:10.1093/nar/26.8.1959 · Cited by 20
Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations
Bruque, C. D., Delea, M., Fernández, C. S., Orza, J. V., Taboas, M., Buzzalino, N. D., Espeche, L. D., Solari, A. P., Luccerini, V., Alba, L. G., et al. (2016) · Scientific Reports · doi:10.1038/srep39082 · Cited by 21
Molecular pathology of 21‐hydroxylase deficiency
Strachan, T. (1994) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00711358 · Cited by 20
Identification of Molecular Defects Causing Congenital Adrenal Hyperplasia by Cloning and Differential Hybridization of Polymerase Chain Reaction-Amplified 21-Hydroxylase ( CYP21 ) Genes
Helmberg, A., Tabarelli, M., FUCHS, M. A., Keller, E., Dobler, G., Schnegg, I., Knorr, D., Albert, E. D., & Kofler, R. (1992) · DNA and Cell Biology · doi:10.1089/dna.1992.11.359 · Cited by 20
“ÎPoliclinic for Children and the §Children's Hospital, University of Munich, 8000 Munich, FRG. some 6 closely linked to a 97% similar pseudogene, CYP2IA, containing several deleterious mutations (Higashi et al, 1986; White et al, 1986; Rodrigues et al, 1987).”
Molecular and endocrine characterization of a mutation involving a recombination between the steroid 21-hydroxylase functional gene and pseudogene
Killeen, A. A., Sane, K., & Orr, H. T. (1991) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/0960-0760(91)90078-j · Cited by 20
Research resource: correlating human cytochrome P450 21A2 crystal structure and phenotypes of mutations in congenital adrenal hyperplasia
Pallan, P. S., Lei, L., Wang, C., Waterman, M. R., Guengerich, F. P., & Egli, M. (2015) · Molecular Endocrinology · doi:10.1210/me.2015-1127 · Cited by 19
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic
Laino, L., Majore, S., Preziosi, N., Grammatico, B., Bernardo, C. D., Scommegna, S., Rapone, A. M., Marrocco, G., Bottillo, I., & Grammatico, P. (2014) · Endocrine Connections · doi:10.1530/ec-14-0085 · Cited by 19
Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene.
Bobba, A., Iolascon, A., Giannattasio, S., Albrizio, M., Sinisi, A. M., Prisco, F., Schettini, F., & Marra, E. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.3.223 · Cited by 19

Authors: Rodrigues, N. R., Dunham, I., Yu, C. Y., Carroll, M. C., Porter, R. R., & Campbell, R. D.
ORCID: Dunham, I.
Yu, C. Y.
Carroll, M. C.
Venue: The EMBO Journal
Publisher: Springer Science and Business Media LLC
Published: 1987-06-01
Volume: 6
Issue: 6
Pages: 1653-1661
ISSN: 0261-4189 (ISSN-L)
1460-2075
DOI: 10.1002/j.1460-2075.1987.tb02414.x
PMC: PMC553538
OpenAlex: W1568019658
Semantic Scholar: c409c6a71e5d6a8da1d3fca733b677457cb6f3e0
Cited by: 182
References: 48
Citations by year: 2026: 2 · 2025: 1 · 2024: 1 · 2023: 2 · 2022: 1 · 2021: 2 · 2020: 1 · 2019: 3 · 2018: 3 · 2017: 3 · 2016: 1 · 2015: 2 · 2014: 6 · 2013: 2 · 2012: 4
FWCI: 5.92
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: The EMBO Journal (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords: congenital adrenal hyperplasia, 21-hydroxylase deficiency, salt-wasting congenital adrenal hyperplasia, adrenal steroidogenesis, gene cloning, nucleotide sequence comparison, amino acid substitutions, pseudogenes, microsomal enzymes
MeSH terms: Adrenal Hyperplasia, Congenital, Amino Acid Sequence, Base Sequence, Cell Line, Cloning, Molecular, Cosmids, DNA, DNA Restriction Enzymes, Genes, Genes, MHC Class II, HLA Antigens, Humans, Major Histocompatibility Complex, Plasmids, Steroid Hydroxylases, Steroid 21-Hydroxylase

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks