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PMID: 3486422 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 83 ·No. 9 ·1986-05-00 ·Pages 2841-5

Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y

Abstract

Two 21-hydroxylase [P-450(C21)] genes have been isolated from a human genomic library using a bovine P-450(C21) cDNA. The insert DNAs containing the P-450(C21) genes were also hybridized with the sequences of the 5' or 3' end regions of human C4 cDNA, indicating a close linkage of the P-450(C21) gene to the C4 gene. Sequence analysis has revealed that the two P-450(C21) genes are both approximately equal to 3.4 kilobases long and split into 10 exons. Comparing the two sequences, we found that the two genes are highly homologous including their introns and flanking sequences, but that three mutations render one of the two P-450(C21) genes nonfunctional--1 base insertion, an 8-base deletion, and a transition mutation--all of which may cause premature termination of the translation. Tandem arrangement of the highly homologous pseudo- and genuine genes in close proximity could account for the high incidence of P-450(C21) gene deficiency by homologous gene recombination.

MeSH Terms

Base Sequence Biological Evolution Cloning, Molecular Cytochrome P-450 Enzyme System/genetics DNA/analysis Sequence Homology, Nucleic Acid Steroid 21-Hydroxylase/genetics Steroid Hydroxylases/genetics Transcription, Genetic

Chemicals

DNA Cytochrome P-450 Enzyme System Steroid Hydroxylases Steroid 21-Hydroxylase

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Higashi Y

Yoshioka H

Yamane M

Gotoh O

Fujii-Kuriyama Y

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22 references, click to expand

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Article Info

Journal

Proceedings of the National Academy of Sciences of the United States of America

Abbr.

Proc Natl Acad Sci U S A

ISSN

0027-8424

DOI

10.1073/pnas.83.9.2841

Published

1986-05-00

Pages

2841-5

Language

English

Region

United States

NLM ID

7505876

PMCID

PMC323402

Subset

Databases

GENBANK

M12792, M12793

External Links

PubMed source DOI: 10.1073/pnas.83.9.2841 PMC Full Text View journal details

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Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.

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