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Structure of human steroid 21-hydroxylase genes.
Open accessAbstract
We have determined the structure of cDNA and two genomic genes encoding steroid 21-hydroxylase [21-OHase; steroid 21-monooxygenase; steroid, hydrogen-donor:oxygen oxidoreductase (21-hydroxylating); EC 1.14.99.10]. If this cytochrome P-450 enzyme is defective, cortisol cannot be synthesized, resulting in congenital adrenal hyperplasia. The cDNA encoding this enzyme is 2.0 kilobases long, and the encoded protein is predicted to contain 494 amino acid residues with a molecular weight of 55,000. This enzyme is at most 28% homologous to other P-450 enzymes that have been studied. The 21-OHase genomic genes, which are located in the HLA major histocompatibility complex on chromosome 6, each contain 10 exons. This structure is distinct from other characterized P-450 genes, which contain 7 or 9 exons. Studies of individuals with homozygous deletions of the 21-OHase A or B genes suggest that only the B gene encodes an active enzyme. This is confirmed by the finding that the A gene has an 8-base deletion within codons 110-112, resulting in a frameshift that brings a stop codon into the reading frame at codon 130. A second frameshift and a nonsense mutation occur downstream. In contrast, the sequence of the exons of the B gene is identical to the cDNA sequence. The 21-OHase A gene is, therefore, a pseudogene.
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“Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most technically challenging monogenic conditions for molecular diagnosis, owing to the complex genomic architecture of the CYP21A2 locus and the extensive homology between the functional gene and its pseudogene.”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [9]
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“The functional gene CYP21A2, located adjacent to C4B, extends over approximately 3.4 kb and encodes a cytochrome P450 enzyme comprising 495 amino acids, whereas CYP21A1P, located adjacent to C4A, is a pseudogene containing multiple inactivating pathogenic variants that preclude proper protein expression (9, 10) (Figure 1).”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [9]
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“CYP21A1P is transcribed but its mRNA cannot encode a functional protein owing to at least 10 deleterious mutations (143,144) including two frameshifts (8 bp deletion in exon 3, 1 bp insertion in exon 7, a nonsense mutation (p.Gln318stop; Q318X) (152), and a mutation in intron 2 that activates a cryptic splice site and causes an extra 19 nucleotides to be included in the mRNA (153).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [143]
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“The most important CYP21A2 transcript begins 10-11 nucleotides before the initial AUG codon (143).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [143]
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“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 [358]
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“Both genes contain 10 exons and share remarkably high sequence identity, approximately 98% identity in exons and 96% in introns (9, 10).”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [9]
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“CYP21A2 and CYP21A1P both consist of 10 exons and share high nucleotide homology of about 98% and 96% in exons and introns respectively (143,144).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [143]
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“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 [358]
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Metadata
- Authors
- White, P. C., New, M. I., & Dupont, B.
- Affiliations
- Cornell University (US)
- ORCID
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 1986-07
- Volume
- 83
- Issue
- 14
- Pages
- 5111-5115
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC323900
- OpenAlex
- W1964331183
- Semantic Scholar
- ccd3407f0482a5416b4a637b0f55e07a9dd01000
- Cited by
- 569
- References
- 37
- Citations by year
- 2026: 7 · 2025: 9 · 2024: 12 · 2023: 12 · 2022: 8 · 2021: 15 · 2020: 5 · 2019: 6 · 2018: 7 · 2017: 6 · 2016: 8 · 2015: 8 · 2014: 8 · 2013: 16 · 2012: 12
- FWCI
- 9.94
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Cancer Institute (CA 22507, CA08478)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 00072)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
- Keywords
- 21-hydroxylase, CYP21, cytochrome P450, congenital adrenal hyperplasia, cDNA structure, exon-intron organization, HLA complex, chromosome 6, pseudogenes, frameshift mutation, nonsense mutation, cortisol production, gene homology
- MeSH terms
- Amino Acid Sequence, Base Sequence, Cytochrome P-450 Enzyme System, DNA, Genes, Humans, Molecular Weight, Sequence Homology, Nucleic Acid, Steroid Hydroxylases, Steroid 21-Hydroxylase
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