» Articles » PMID: 3871526

Mapping of Steroid 21-hydroxylase Genes Adjacent to Complement Component C4 Genes in HLA, the Major Histocompatibility Complex in Man

Overview
Specialty Science
Date 1985 Jan 1
PMID 3871526
Citations 117
Authors
Affiliations
Soon will be listed here.
Abstract

The genes for four components (C) of complement in the human major histocompatibility complex (HLA) have been aligned previously in a series of overlapping cosmid cloned inserts. Those inserts, which contained the two C4 genes C4A and C4B, hybridized with human adrenal mRNA, indicating that they contain a gene expressed in the adrenal. The mRNA fraction of 2.4 kilobases (kb) hybridizes with genomic DNA of 4.5 kb, which is duplicated and lies about 1.5 kb 3' of both the C4A and the C4B complement genes. Sequencing of a 430-base section and comparison with the published cDNA sequence of bovine cytochrome P-450 21-hydroxylase, peptide sequences of porcine 21-hydroxylase, and a cDNA sequence of a rat liver cytochrome P-450 identified the gene as coding for human steroid 21-hydroxylase [steroid,hydrogen-donor:oxygen oxidoreductase (21-hydroxylating), EC 1.14.99.10]. Mapping of the gene was helped by use of a synthetic oligonucleotide based on the bovine cDNA sequence.

Citing Articles

Adrenal adenoma secreting 17-hydroxyprogesterone mimicking non-classical 21-hydroxylase deficiency.

Wozniak B, Leszczynska D, Szatko A, Nowak K, Samsel R, Siejka A Front Endocrinol (Lausanne). 2024; 15:1499836.

PMID: 39640880 PMC: 11617185. DOI: 10.3389/fendo.2024.1499836.


Congenital Adrenal Hyperplasia - A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India.

Ravichandran L, Asha H, Mathai S, Thomas N, Chapla A Indian J Endocrinol Metab. 2024; 28(2):117-128.

PMID: 38911104 PMC: 11189293. DOI: 10.4103/ijem.ijem_303_23.


Disorders of the adrenal cortex: Genetic and molecular aspects.

Pitsava G, Maria A, Faucz F Front Endocrinol (Lausanne). 2022; 13:931389.

PMID: 36105398 PMC: 9465606. DOI: 10.3389/fendo.2022.931389.


History of Adrenal Research: From Ancient Anatomy to Contemporary Molecular Biology.

Miller W, White P Endocr Rev. 2022; 44(1):70-116.

PMID: 35947694 PMC: 9835964. DOI: 10.1210/endrev/bnac019.


Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?.

Jha S, Turcu A Endocrinol Metab Clin North Am. 2021; 50(1):151-165.

PMID: 33518183 PMC: 7863575. DOI: 10.1016/j.ecl.2020.10.008.


References
1.
Rigby P, Dieckmann M, Rhodes C, Berg P . Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977; 113(1):237-51. DOI: 10.1016/0022-2836(77)90052-3. View

2.
Carroll M, Belt T, Palsdottir A, Porter R . Structure and organization of the C4 genes. Philos Trans R Soc Lond B Biol Sci. 1984; 306(1129):379-88. DOI: 10.1098/rstb.1984.0098. View

3.
White P, New M, DuPont B . HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation. Proc Natl Acad Sci U S A. 1984; 81(23):7505-9. PMC: 392175. DOI: 10.1073/pnas.81.23.7505. View

4.
Wahl G, Stern M, Stark G . Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridization by using dextran sulfate. Proc Natl Acad Sci U S A. 1979; 76(8):3683-7. PMC: 383897. DOI: 10.1073/pnas.76.8.3683. View

5.
Birnboim H, DOLY J . A rapid alkaline extraction procedure for screening recombinant plasmid DNA. Nucleic Acids Res. 1979; 7(6):1513-23. PMC: 342324. DOI: 10.1093/nar/7.6.1513. View