Characterization of two genes encoding human steroid 11β-hydroxylase (P-450(11β))

E. Mornet, J. Dupont, A. Vitek, P. C. White

Research output: Contribution to journalArticle

414 Citations (Scopus)

Abstract

Steroid 11β-hydroxylase (P-450(11β)) is a mitochondrial cytochrome P-450 enzyme necessary for cortisol biosynthesis. Deficiency of 11β-hydroxylase causes a hypertensive form of congenital adrenal hyperplasia. A partial cDNA clone encoding this enzyme has been previously isolated and the corresponding gene, CYP11B1, mapped to human chromosome 8q. This gene has now been isolated along with a second linked homologous gene, CYP11B2. Each gene contains nine exons. The eight introns are identical in location to the introns of the CYP11A gene encoding another mitochondrial P-450 enzyme, cholesterol desmolase, confirming that 11β-hydroxylase and cholesterol desmolase are in the same gene family within the P-450 superfamily. The nucleotide sequences of CYP11B1 and B2 are 95% identical in coding regions and about 90% identical in introns. The putative proteins encoded by CYP11B1 and B2 each contain 503 amino acids including a 24-residue signal peptide and have sequences that are 93% identical to each other and 75% identical to the predicted sequence of bovine P-450(11β). There are no obviously deleterious mutations in coding sequences of CYP11B2. However, the 5'-flanking regions of CYP11B1 and B2 have diverged considerably, and B2 transcripts were not detected in human adrenal mRNA or among cDNA clones.

Original languageEnglish (US)
Pages (from-to)20961-20967
Number of pages7
JournalJournal of Biological Chemistry
Volume264
Issue number35
StatePublished - 1989

Fingerprint

Steroid 11-beta-Hydroxylase
Gene encoding
Genes
Cytochrome P-450 CYP11B2
Cholesterol Side-Chain Cleavage Enzyme
Introns
Mixed Function Oxygenases
Cytochrome P-450 Enzyme System
Complementary DNA
Clone Cells
5' Flanking Region
Biosynthesis
Congenital Adrenal Hyperplasia
Chromosomes
Protein Sorting Signals
Human Chromosomes
Hydrocortisone
Exons
Nucleotides
Amino Acids

ASJC Scopus subject areas

  • Biochemistry

Cite this

Characterization of two genes encoding human steroid 11β-hydroxylase (P-450(11β)). / Mornet, E.; Dupont, J.; Vitek, A.; White, P. C.

In: Journal of Biological Chemistry, Vol. 264, No. 35, 1989, p. 20961-20967.

Research output: Contribution to journalArticle

Mornet, E. ; Dupont, J. ; Vitek, A. ; White, P. C. / Characterization of two genes encoding human steroid 11β-hydroxylase (P-450(11β)). In: Journal of Biological Chemistry. 1989 ; Vol. 264, No. 35. pp. 20961-20967.
@article{cef276e225ed4046b47902e08c62d4e9,
title = "Characterization of two genes encoding human steroid 11β-hydroxylase (P-450(11β))",
abstract = "Steroid 11β-hydroxylase (P-450(11β)) is a mitochondrial cytochrome P-450 enzyme necessary for cortisol biosynthesis. Deficiency of 11β-hydroxylase causes a hypertensive form of congenital adrenal hyperplasia. A partial cDNA clone encoding this enzyme has been previously isolated and the corresponding gene, CYP11B1, mapped to human chromosome 8q. This gene has now been isolated along with a second linked homologous gene, CYP11B2. Each gene contains nine exons. The eight introns are identical in location to the introns of the CYP11A gene encoding another mitochondrial P-450 enzyme, cholesterol desmolase, confirming that 11β-hydroxylase and cholesterol desmolase are in the same gene family within the P-450 superfamily. The nucleotide sequences of CYP11B1 and B2 are 95{\%} identical in coding regions and about 90{\%} identical in introns. The putative proteins encoded by CYP11B1 and B2 each contain 503 amino acids including a 24-residue signal peptide and have sequences that are 93{\%} identical to each other and 75{\%} identical to the predicted sequence of bovine P-450(11β). There are no obviously deleterious mutations in coding sequences of CYP11B2. However, the 5'-flanking regions of CYP11B1 and B2 have diverged considerably, and B2 transcripts were not detected in human adrenal mRNA or among cDNA clones.",
author = "E. Mornet and J. Dupont and A. Vitek and White, {P. C.}",
year = "1989",
language = "English (US)",
volume = "264",
pages = "20961--20967",
journal = "Journal of Biological Chemistry",
issn = "0021-9258",
publisher = "American Society for Biochemistry and Molecular Biology Inc.",
number = "35",

}

TY - JOUR

T1 - Characterization of two genes encoding human steroid 11β-hydroxylase (P-450(11β))

AU - Mornet, E.

AU - Dupont, J.

AU - Vitek, A.

AU - White, P. C.

PY - 1989

Y1 - 1989

N2 - Steroid 11β-hydroxylase (P-450(11β)) is a mitochondrial cytochrome P-450 enzyme necessary for cortisol biosynthesis. Deficiency of 11β-hydroxylase causes a hypertensive form of congenital adrenal hyperplasia. A partial cDNA clone encoding this enzyme has been previously isolated and the corresponding gene, CYP11B1, mapped to human chromosome 8q. This gene has now been isolated along with a second linked homologous gene, CYP11B2. Each gene contains nine exons. The eight introns are identical in location to the introns of the CYP11A gene encoding another mitochondrial P-450 enzyme, cholesterol desmolase, confirming that 11β-hydroxylase and cholesterol desmolase are in the same gene family within the P-450 superfamily. The nucleotide sequences of CYP11B1 and B2 are 95% identical in coding regions and about 90% identical in introns. The putative proteins encoded by CYP11B1 and B2 each contain 503 amino acids including a 24-residue signal peptide and have sequences that are 93% identical to each other and 75% identical to the predicted sequence of bovine P-450(11β). There are no obviously deleterious mutations in coding sequences of CYP11B2. However, the 5'-flanking regions of CYP11B1 and B2 have diverged considerably, and B2 transcripts were not detected in human adrenal mRNA or among cDNA clones.

AB - Steroid 11β-hydroxylase (P-450(11β)) is a mitochondrial cytochrome P-450 enzyme necessary for cortisol biosynthesis. Deficiency of 11β-hydroxylase causes a hypertensive form of congenital adrenal hyperplasia. A partial cDNA clone encoding this enzyme has been previously isolated and the corresponding gene, CYP11B1, mapped to human chromosome 8q. This gene has now been isolated along with a second linked homologous gene, CYP11B2. Each gene contains nine exons. The eight introns are identical in location to the introns of the CYP11A gene encoding another mitochondrial P-450 enzyme, cholesterol desmolase, confirming that 11β-hydroxylase and cholesterol desmolase are in the same gene family within the P-450 superfamily. The nucleotide sequences of CYP11B1 and B2 are 95% identical in coding regions and about 90% identical in introns. The putative proteins encoded by CYP11B1 and B2 each contain 503 amino acids including a 24-residue signal peptide and have sequences that are 93% identical to each other and 75% identical to the predicted sequence of bovine P-450(11β). There are no obviously deleterious mutations in coding sequences of CYP11B2. However, the 5'-flanking regions of CYP11B1 and B2 have diverged considerably, and B2 transcripts were not detected in human adrenal mRNA or among cDNA clones.

UR - http://www.scopus.com/inward/record.url?scp=0024842845&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0024842845&partnerID=8YFLogxK

M3 - Article

VL - 264

SP - 20961

EP - 20967

JO - Journal of Biological Chemistry

JF - Journal of Biological Chemistry

SN - 0021-9258

IS - 35

ER -