Literature DB >> 3871526

Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

M C Carroll, R D Campbell, R R Porter.   

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.

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Year:  1985        PMID: 3871526      PMCID: PMC397071          DOI: 10.1073/pnas.82.2.521

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


  19 in total

1.  Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I.

Authors:  P W Rigby; M Dieckmann; C Rhodes; P Berg
Journal:  J Mol Biol       Date:  1977-06-15       Impact factor: 5.469

2.  Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridization by using dextran sulfate.

Authors:  G M Wahl; M Stern; G R Stark
Journal:  Proc Natl Acad Sci U S A       Date:  1979-08       Impact factor: 11.205

3.  A rapid alkaline extraction procedure for screening recombinant plasmid DNA.

Authors:  H C Birnboim; J Doly
Journal:  Nucleic Acids Res       Date:  1979-11-24       Impact factor: 16.971

4.  Polymorphic DNA region adjacent to the 5' end of the human insulin gene.

Authors:  G I Bell; J H Karam; W J Rutter
Journal:  Proc Natl Acad Sci U S A       Date:  1981-09       Impact factor: 11.205

5.  A catalogue of splice junction sequences.

Authors:  S M Mount
Journal:  Nucleic Acids Res       Date:  1982-01-22       Impact factor: 16.971

6.  Sequencing end-labeled DNA with base-specific chemical cleavages.

Authors:  A M Maxam; W Gilbert
Journal:  Methods Enzymol       Date:  1980       Impact factor: 1.600

7.  Structure and organization of the C4 genes.

Authors:  M C Carroll; T Belt; A Palsdottir; R R Porter
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  1984-09-06       Impact factor: 6.237

8.  HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation.

Authors:  P C White; M I New; B Dupont
Journal:  Proc Natl Acad Sci U S A       Date:  1984-12       Impact factor: 11.205

9.  The use of synthetic oligonucleotides as hybridization probes. II. Hybridization of oligonucleotides of mixed sequence to rabbit beta-globin DNA.

Authors:  R B Wallace; M J Johnson; T Hirose; T Miyake; E H Kawashima; K Itakura
Journal:  Nucleic Acids Res       Date:  1981-02-25       Impact factor: 16.971

10.  Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease.

Authors:  J M Chirgwin; A E Przybyla; R J MacDonald; W J Rutter
Journal:  Biochemistry       Date:  1979-11-27       Impact factor: 3.162

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  114 in total

1.  HLADR5 and C4BQO high frequency and antinuclear antibodies positivity in patients with 21 hydroxylase deficiency from Campania region.

Authors:  F Parlato; G Pisano; G Misiano; E Cosentini; C Cacciapuoti; M R Cavalcanti; M Brai; A Bellastella
Journal:  J Endocrinol Invest       Date:  1992-06       Impact factor: 4.256

2.  A unique recombination event resulting in a C4A*Q0,C4B*Q0 double null haplotype.

Authors:  M B Fasano; J A Winkelstein; T LaRosa; W B Bias; R H McLean
Journal:  J Clin Invest       Date:  1992-10       Impact factor: 14.808

3.  Highly polymorphic XbaI RFLPs of the human 21-hydroxylase genes among Chinese.

Authors:  L Chen; X Pan; Y Shen; Z Chen; Y Zhang; R Chen
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

4.  Mutation analysis of the CYP21A2 gene in the Iranian population.

Authors:  Bahareh Rabbani; Nejat Mahdieh; Mohammad Tahgi Haghi Ashtiani; Bagher Larijani; Mohammad Taghi Akbari; Maria New; Alan Parsa; Jan P Schouten; Ali Rabbani
Journal:  Genet Test Mol Biomarkers       Date:  2011-10-21

5.  Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency.

Authors:  Y Higashi; A Tanae; H Inoue; Y Fujii-Kuriyama
Journal:  Am J Hum Genet       Date:  1988-01       Impact factor: 11.025

Review 6.  Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome.

Authors:  Walter L Miller; Deborah P Merke
Journal:  Horm Res Paediatr       Date:  2018-05-07       Impact factor: 2.852

7.  Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.

Authors:  P C White; A Vitek; B Dupont; M I New
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205

8.  Nonsense mutation causing steroid 21-hydroxylase deficiency.

Authors:  H Globerman; M Amor; K L Parker; M I New; P C White
Journal:  J Clin Invest       Date:  1988-07       Impact factor: 14.808

9.  Duplication of the MHC-linked Xenopus complement factor B gene.

Authors:  Y Kato; L Salter-Cid; M F Flajnik; C Namikawa; M Sasaki; M Nonaka
Journal:  Immunogenetics       Date:  1995       Impact factor: 2.846

10.  Extended major histocompatibility complex haplotypes in patients with gluten-sensitive enteropathy.

Authors:  C A Alper; E Fleischnick; Z Awdeh; A J Katz; E J Yunis
Journal:  J Clin Invest       Date:  1987-01       Impact factor: 14.808

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