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

Rodrigues, N. R.; Dunham, I.; Yu, C. Y.; Carroll, M. C.; Porter, R. R.; Campbell, R. D.

doi:10.1002/j.1460-2075.1987.tb02414.x

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

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?

The CYP21 genes consist of 10 exons, are about 3.4 kb long, and differ in only 87 or 88 of these bases.
“The CYP21 genes consist of 10 exons (373), are about 3.4 kb long, and differ in only 87 or 88 of these bases (357-359).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [359]
The Results (page unavailable) say the two 21-hydroxylase genes have 10 exons and are 3.3 kb long, close to the claimed approximate length. But the paper reports 90 nucleotide differences between them, not 87 or 88. (LLM, conf=0.88)
Experimental — accuracy not yet measured
Characterization of the P450c21 protein and gene cloning show there is only one 21-hydroxylase encoded by a single functional gene on chromosome 6p21.
“However, characterization of the P450c21 protein (355) and gene cloning show there is only one 21-hydroxylase encoded by a single functional gene on chromosome 6p21 (356 -359).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [359]

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 · see citing works
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 · see citing works
Molecular Cloning. A Laboratory Manual
Wood, E. (1983) · Biochemical Education · doi:10.1016/0307-4412(83)90068-7 · Cited by 29,534 · see citing works
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 · see citing works
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 · see citing works
[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 14,678 · see citing works
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 · see citing works
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 3,351 · see citing works
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 2,940 · see citing works
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 2,416 · see citing works
HISTOCOMPATIBILITY TESTING, 1972
Chee, R. E. (1974) · The Medical Journal of Australia · doi:10.5694/j.1326-5377.1974.tb70792.x · Cited by 1,179 · see citing works
Oxygen Activation by Cytochrome P-4501
White, R. E., & Coon, M. J. (1980) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.49.070180.001531 · Cited by 1,023 · see citing works
Polymorphic DNA region adjacent to the 5' end of the human insulin gene.
Bell, G. I., Karam, J. H., & Rutter, W. J. (1981) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.78.9.5759 · Cited by 901 · see citing works
Structure of human steroid 21-hydroxylase genes.
White, P. C., New, M. I., & Dupont, B. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.14.5111 · Cited by 569 · see citing works
Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.
Higashi, Y., Yoshioka, H., Yamane, M., Gotoh, O., & Fujii-Kuriyama, Y. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.9.2841 · Cited by 555 · see citing works
Photochemical Action Spectrum of the Terminal Oxidase of Mixed Function Oxidase Systems
Cooper, D. Y., Levin, S. S., Narasimhulu, S., Rosenthal, O., & Estabrook, R. W. (1965) · Science · doi:10.1126/science.147.3656.400 · Cited by 501 · see citing works
Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man
White, P. C., Grossberger, D., Onufer, B. J., Chaplin, D. D., New, M. I., Dupont, B., & Strominger, J. L. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.4.1089 · Cited by 490 · see citing works
A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B
Carroll, M. C., Campbell, R. D., Bentley, D., & Porter, R. R. (1984) · Nature · doi:10.1038/307237a0 · Cited by 432 · see citing works
Self-citation
The structural basis of the multiple forms of human complement component C4
Belt, K., Carroll, M. C., & Porter, R. R. (1984) · Cell · doi:10.1016/0092-8674(84)90040-0 · Cited by 417 · see citing works
Self-citation
Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency)
Dupont, B., Oberfield, S. E., Smithwick, E. M., Lee, T. D., & Levine, L. S. (1977) · The Lancet · doi:10.1016/s0140-6736(77)90362-2 · Cited by 371 · see citing works
Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.
Carroll, M. C., Campbell, R. D., & Porter, R. R. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.2.521 · Cited by 370 · see citing works
Self-citation
The gene structure of human anti‐haemophilic factor IX.
Anson, D. S., Choo, K. H. A., Rees, D. J. G., Giannelli, F., Gould, K. G., Huddleston, J. A., & Brownlee, G. G. (1984) · The EMBO Journal · doi:10.1002/j.1460-2075.1984.tb01926.x · Cited by 364 · see citing works
HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation.
White, P. C., New, M. I., & Dupont, B. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.23.7505 · Cited by 292 · see citing works
High frequency of nonclassical steroid 21-hydroxylase deficiency.
Speiser, P., Dupont, B., Rubinstein, P., Piazza, A., Kaštelan, A., & New, M. I. (1985) · PubMed · Cited by 265 · see citing works
Statement on the Nomenclature of Human C4 Allotypes
Mauff, G., Alper, C. A., Awdeh, Z., Batchelor, J. R., Bertrams, J., Bruun‐Petersen, G., Dawkins, R. L., Démant, P., Edwards, J., Grosse‐Wilde, H., et al. (1983) · Immunobiology · doi:10.1016/s0171-2985(83)80009-6 · Cited by 227 · see citing works
Structural basis of the polymorphism of human complement components C4A and C4B: gene size, reactivity and antigenicity.
Yu, C. Y., Belt, K. T., Giles, C. M., Campbell, R. D., & Porter, R. R. (1986) · The EMBO Journal · doi:10.1002/j.1460-2075.1986.tb04582.x · Cited by 221 · see citing works
Self-citation
Deletion of complement C4 and steroid 21‐hydroxylase genes in the HLA class III region.
Carroll, M. C., Pálsdóttir, Á., Belt, K., & Porter, R. R. (1985) · The EMBO Journal · doi:10.1002/j.1460-2075.1985.tb03969.x · Cited by 209 · see citing works
Self-citation
Molecular cloning and nucleotide sequence of cDNA for mRNA of mitochondrial cytochrome P-450(SCC) of bovine adrenal cortex.
Morohashi, K., Fujii-Kuriyama, Y., Okada, Y., Sogawa, K., Hirose, T., Inayama, S., & Omura, T. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.15.4647 · Cited by 207 · see citing works
Polymorphism of human complement component C4
Belt, K., Yu, C. Y., Carroll, M. C., & Porter, R. R. (1985) · Immunogenetics · doi:10.1007/bf00364869 · Cited by 134 · see citing works
Self-citation
Gene Conversion in Salt-Losing Congenital Adrenal Hyperplasia with Absent Complement C4B Protein*
Donohoue, P. A., Dop, C. V., McLean, R. H., White, P. C., Jospe, N., & Migeon, C. J. (1986) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-62-5-995 · Cited by 124 · see citing works
Cloning and expression of cDNA encoding a bovine adrenal cytochrome P-450 specific for steroid 21-hydroxylation.
White, P. C., New, M. I., & Dupont, B. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.7.1986 · Cited by 107 · see citing works
Nucleotide sequence analysis of murine 21-hydroxylase genes: mutations affecting gene expression
Chaplin, D. D., Galbraith, L. J., Seidman, J. G., White, P. C., & Parker, K. L. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.24.9601 · Cited by 98 · see citing works
Structure of a bovine gene for P-450c21 (steroid 21-hydroxylase) defines a novel cytochrome P-450 gene family.
Chung, B. C., Matteson, K. J., & Miller, W. L. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.12.4243 · Cited by 95 · see citing works
Structure and organization of the C4 genes
Carroll, M. C., Belt, T., Pálsdóttir, Á., & Porter, R. R. (1984) · Philosophical transactions of the Royal Society of London. Series B, Biological sciences · doi:10.1098/rstb.1984.0098 · Cited by 91 · see citing works
Self-citation
Inborn errors of steroid biosynthesis.
Finkelstein, M., & SHAEFER, J. M. (1979) · Physiological Reviews · doi:10.1152/physrev.1979.59.2.353 · Cited by 89 · see citing works
Structural analysis of cloned cDNA for mRNA of microsomal cytochrome P-450(C21) which catalyzes steroid 21-hydroxylation in bovine adrenal cortex.
Yoshioka, H., Morohashi, K.-I., Sogawa, K., Yamane, M., Kominami, S. A. J., Takemori, S., Okada, Y., Omura, T., & Fujii-Kuriyama, Y. (1986) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)35630-2 · Cited by 71 · see citing works
Models for ferric cytochrome P450. Characterization of hemin mercaptide complexes by electronic and ESR spectra
Ruf, H. H., Wende, P., & Ullrich, V. (1979) · Journal of Inorganic Biochemistry · doi:10.1016/s0162-0134(00)80017-3 · Cited by 68 · see citing works
Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia.
Rumsby, G., Carroll, M. C., Porter, R. R., Grant, D., & Hjelm, M. (1986) · Journal of Medical Genetics · doi:10.1136/jmg.23.3.204 · Cited by 63 · see citing works
Self-citation
Steroid 21-hydroxylase (cytochrome P-450) from porcine adrenocortical microsomes: microsequence analysis of cysteine-containing peptides
Yuan, P. M., Nakajin, S., Haniu, M., Hall, P. F., & Shively, J. E. (1983) · Biochemistry · doi:10.1021/bi00270a021 · Cited by 59 · see citing works
Rodgers (Rg) and Chido (Ch) determinants on human C4: characterization of two C4 B5 subtypes, one of which contains Rg and Ch determinants.
Roos, M. H., Giles, C. M., Démant, P., Mollenhauer, E., & Rittner, C. K. (1984) · The Journal of Immunology · doi:10.4049/jimmunol.133.5.2634 · Cited by 56 · see citing works
Endogenous cysteine ligation in ferric and ferrous cytochrome P-450. Direct evidence from x-ray absorption spectroscopy.
Penner‐Hahn, J. E., Hodgson, K. O., Andersson, L. A., & Dawson, J. H. (1982) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)33913-9 · Cited by 48 · see citing works
Recent Advances in 21-Hydroxylase Deficiency
New, M. I., & Levine, L. S. (1984) · Annual Review of Medicine · doi:10.1146/annurev.me.35.020184.003245 · Cited by 41 · see citing works
C4 AND HLA HAPLOTYPES ASSOCIATED WITH PARTIAL INHIBITION OF ANTI‐RG AND ANTI‐CH
Giles, C. M., Batchelor, J. R., Dodi, I. A., Fielder, A. H. L., Rittner, C., Mauff, G., Bender, K. J., Levene, C., Schreuder, G. M. T., & Wells, L. J. (1984) · International Journal of Immunogenetics · doi:10.1111/j.1744-313x.1984.tb00817.x · Cited by 33 · see citing works
Some guidelines for identification of recognition sequences: Regulatory sequences frequently contain (T)GTG/CAC(A), TGA/TCA and (T)CTC/GAG(A)
Nussinov, R. (1986) · Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · doi:10.1016/0167-4781(86)90106-5 · Cited by 20 · see citing works
Model systems for the coordination chemistry of cytochrome P-450
Ullrich, V., Sakurai, H., & Hh, R. (1979) · De Gruyter eBooks · doi:10.1515/9783112650066-017 · Cited by 1 · see citing works

Flagged first, then by citations

3 of the 48 references couldn’t be matched to a known paper.

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 · see citing works
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 · see citing works
“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 1,637 · see citing works
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 · see citing works
“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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 235 · see citing works
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 · see citing works
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 · see citing works
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 196 · see citing works
Self-citation
Deficiencies of Human Complement Component C4a and C4b and Heterozygosity in Length Variants ofRP-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 · see citing works
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 · see citing works
Self-citation
A Mutation (Pro-30 to Leu) inCYP21 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 · see citing works
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 · see citing works
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 · see citing works
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 160 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
CYP21A2mutation 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 · see citing works
“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 · see citing works
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 · see citing works
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 88 · see citing works
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 · see citing works
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 87 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Molecular Genetics of the Human MHC Complement Gene Cluster
Yu, C. Y. (1998) · Experimental and Clinical Immunogenetics · doi:10.1159/000019075 · Cited by 67 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 57 · see citing works
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 · see citing works
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 · see citing works
Gene conversion in steroid 21-hydroxylase genes.
(1990) · Europe PMC (PubMed Central) · Cited by 55 · see citing works
The Adrenal Cortex and its Disorders
Miller, W. L. (2009) · Wiley eBooks · doi:10.1002/9781444316728.ch13 · Cited by 51 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 46 · see citing works
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 · see citing works
“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 · see citing works
“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 · see citing works
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 · see citing works
“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 · see citing works
Self-citation
Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia1
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 40 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
MOLECULAR PATHOLOGY OF CONGENITAL ADRENAL HYPERPLASIA
Strachan, T. (1990) · Clinical Endocrinology · doi:10.1111/j.1365-2265.1990.tb00878.x · Cited by 31 · see citing works
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 · see citing works
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 · see citing works
“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 · see citing works
“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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 26 · see citing works
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 · see citing works
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 24 · see citing works
“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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Analysis of Mutations Causing Steroid 21-hydroxylase Deficiency
White, P. C. (1989) · Endocrine Research · doi:10.1080/07435808909039099 · Cited by 22 · see citing works
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 · see citing works
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 · see citing works
Molecular pathology of 21‐hydroxylase deficiency
Strachan, T. (1994) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00711358 · Cited by 20 · see citing works
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 · see citing works
“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 · see citing works
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 · see citing works
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. A., Bottillo, I., & Grammatico, P. (2014) · Endocrine Connections · doi:10.1530/ec-14-0085 · Cited by 19 · see citing works
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 · see citing works

Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.
Harada, F., Kimura, A., Iwanaga, T., Shimozawa, K., Yata, J., & Sasazuki, T. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.22.8091 · Cited by 93 · see citing works
Frequent deletion and duplication of the steroid 21-hydroxylase genes.
WERKMEISTER, J. W., New, M. I., Dupont, B., & White, P. C. (1986) · PubMed · Cited by 129 · see citing works
The human cytochrome P-450 21-hydroxylase genes
Rodrigues, N. R., & Rodrigues, N. R. (1987) · Oxford University Research Archive (ORA) (University of Oxford) · doi:10.5287/ora-avgo2vbp8
Self-citation
Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency.
Rumsby, G., Fielder, A. H. L., Hague, W. M., & Honour, J. W. (1988) · Journal of Medical Genetics · doi:10.1136/jmg.25.9.596 · Cited by 13 · see citing works
[Mutations in 21-hydroxylase gene caused by gene conversion-like events].
Urabe, K. (1990) · PubMed

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: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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

Integrity signals

Claims the paper makes

Claims other papers make about this one

Self-check

Cites

Cited by

Related

Record

About these checks