The human genome contains only two CYP11B (P450c11) genes.

Zhang, Guangren; Miller, Walter L.

doi:10.1210/jcem.81.9.8784078

Cited by 9 publications

(4 citation statements)

References 18 publications

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“…Alternatively, the disorder could be due to mutation of another gene. However, it has been shown that the human genome contains only two CYP11B genes (18). Thus, we conclude that the endocrine abnormalities of patient 1 are not likely to be caused by genetic variants of the CYP11B2 gene.…”

Section: European Journal Of Endocrinology (1998) 139mentioning

confidence: 57%

Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies

Peter

Bünger

Drop

et al. 1998

European Journal of Endocrinology

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We performed a molecular genetic study in two patients with congenital hypoaldosteronism. An original study of these patients was published in this Journal in 1982. Both index cases, a girl (patient 1) and a boy (patient 2), presented with salt-wasting and failure to thrive in the neonatal period. Parents of patient 1 were not related, whereas the parents of patient 2 were cousins. Endocrine studies had shown a defect in 18-oxidation of 18-OH-corticosterone in patient 1 and a defect in the 18-hydroxylation of corticosterone in patient 2. Plasma aldosterone was decreased in both patients, whereas 18-OH-corticosterone was elevated in patient 1 and decreased in patient 2. Plasma corticosterone and 11-deoxycorticosterone were elevated in both patients, whereas cortisol and its precursors were in the normal range. According to the nomenclature proposed by Ulick, the defects are termed corticosterone methyl oxidase (CMO) deficiency type II in patient 1, and type I in patient 2 respectively. Genetic defects in the gene CYP11B2 encoding aldosterone synthase have been described in a few cases. In patient 1, we identified only one heterozygous amino acid substitution (V386A) in exon 7, which has no deleterious effect on the enzyme activity. In patient 2 and his older brother, we identified a homozygous single base exchange (G to T) in codon 255 (GAG), causing a premature stop codon E255X (TAG). The mutant enzyme has lost the five terminal exons containing the haem binding site, and is thus a loss of function enzyme. This is only the second report of a patient with CMO deficiency type II without a mutation in the exons and exon-intron boundaries, whereas the biochemical phenotype of the two brothers with CMO deficiency type I can be explained by the patient's genotype.

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Section: European Journal Of Endocrinology (1998) 139mentioning

confidence: 57%

Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies

Peter

Bünger

Drop

et al. 1998

European Journal of Endocrinology

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“…(1995) suggested the existence of P450c11B3‐like enzyme in patients with corticosterone methyl oxidase type II (COMII) deficiency. However, Zhang & Miller (1996) have reported that the human genome contains only two CYP11B (P450c11) genes. Thus, it is not certain that P450c11β can convert 18‐OH‐DOC to 18‐OH‐B and B to 18‐OH‐B in human adrenal cells.…”

Section: Discussionmentioning

confidence: 99%

Genetic analysis of the cytochrome P‐450c17α (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17α‐hydroxylase deficiency

Takeda

Yoneda²,

Demura³

et al. 2001

Clinical Endocrinology

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“…Only two CYP11B genes are found in humans, 37 but rat studies are complicated by the presence of CYP11B3 and CYP11B4. CYP11B4 seems only to be a pseudogene, but CYP11B3 is expressed in the adrenal zona fasciculata-reticularis for a short period after birth and is regulated by ACTH.…”

Section: Corticosteroid Biosynthesis In the Cardiovascular Systemmentioning

confidence: 99%

Extra‐adrenal production of corticosteroids

Davies

MacKenzie

2003

Clin Exp Pharma Physio

119

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SUMMARY1. The major corticosteroids aldosterone and cortisol (corticosterone in rodents) are secreted from the adrenal cortex under the regulation of the renin-angiotensin system and the hypothalamic-pituitary-adrenal axis.2. In addition to their accepted roles in such processes as blood pressure regulation, glycogenesis, hepatic glyconeogenesis and immunosuppression, the corticosteroids have been implicated in the development of cardiac fibrosis, modulation of hippocampal neuron excitability, memory formation and neurodegeneration.3. The advent of sensitive molecular biological techniques has produced a wealth of evidence to support the existence of extra-adrenal corticosteroidogenic systems. Most attention has been paid to the cardiovascular system and the central nervous system, where the full array of enzymes required for the de novo synthesis of corticosteroids from cholesterol has been identified. 4. Although the evidence for local corticosteroid production is strong, the quantities of steroid would be small compared with adrenal production. Therefore, it is still a matter of debate as to whether extra-adrenal corticosteroids are of any physiological significance. This will depend on factors such as local concentration, proximity to target cells and, possibly, to tissuespecific control mechanisms.

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The human genome contains only two CYP11B (P450c11) genes.

Cited by 9 publications

References 18 publications

Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies

Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies

Genetic analysis of the cytochrome P‐450c17α (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17α‐hydroxylase deficiency

Extra‐adrenal production of corticosteroids

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