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

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

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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

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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.

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КЛІНІЧНИЙ ВИПАДОК НЕКЛАСИЧНОЇ ФОРМИ ВРОДЖЕНОЇ ДИСФУНКЦІЇ КОРИ НАДНИРКОВИХ ЗАЛОЗ З ДЕФІЦИТОМ ФЕРМЕНТУ 21-ГІДРОКСИЛАЗИ У СПОЛУЧЕННІ З СИНДРОМОМ СПОЛУЧНОТКАНИННОЇ ДИСПЛАЗІЇ
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Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.
(1991) · Europe PMC (PubMed Central) · Cited by 164
Major-histocompatibility-complex gene markers and restriction-fragment analysis of steroid 21-hydroxylase (CYP21) and complement C4 genes in classical congenital adrenal hyperplasia patients in a single population.
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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

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

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