AustralieFrV1, Main, Exploration, bibRecord, 00BD58

Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11β-hydroxylase) and CYP11B2 (aldosterone synthase) cause steroid 11β-hydroxylase deficiency and congenital adrenal hyperplasia

Identifieur interne : 00BD58 ( Main/Exploration ); précédent : 00BD57; suivant : 00BD59

Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11β-hydroxylase) and CYP11B2 (aldosterone synthase) cause steroid 11β-hydroxylase deficiency and congenital adrenal hyperplasia

Auteurs : Stephanie Portrat [France] ; Paolo Mulatero [Italie] ; Kathleen M. Curnow [Australie] ; Jean-Louis Chaussain [France] ; Yves Morel [France] ; Leigh Pascoe [France]

Source :

The Journal of clinical endocrinology and metabolism [ 0021-972X ] ; 2001.

RBID : Pascal:01-0403688

Descripteurs français

Pascal (Inist)
- Hyperplasie surrénale congénitale syndrome, Steroid 11β-monooxygenase, Déficit, Déterminisme génétique, Délétion, Homozygotie, Gène hybride, Réarrangement génique, Aldostérone, Synthase, Homme.
Wicri :
- topic : Déficit, Homme.

English descriptors

KwdEn :
- Aldosterone, Congenital adrenal hyperplasia syndrome, Deficiency, Deletion, Gene rearrangement, Genetic determinism, Homozygosity, Human, Hybrid gene, Steroid 11β-monooxygenase, Synthase.

Abstract

Chromosomal rearrangements are natural experiments that can provide unique insights into in vivo regulation of genes and physiological systems. We have studied a patient with congenital adrenal hyperplasia and steroid 11β-hydroxylase deficiency who was homozygous for a deletion of the CYP11B1 and CYP11B2 genes normally required for cortisol and aldosterone synthesis, respectively. The genes were deleted by unequal recombination between the tandemly arranged CYP11B genes during a previous meiosis, leaving a single hybrid gene consisting of the promoter and exons 1-6 of CYP11B2 and exons 7-9 of CYP11B1. The hybrid gene also carried an I339T mutation formed by intracodon recombination at the chromosomal breakpoint. The mutant complementary DNA corresponding to this gene was expressed in COS-1 cells and was found to have relatively unimpaired 11β-hydroxylase and aldosterone synthase activities. Apparently the 11β-hydroxylase deficiency and the adrenal hyperplasia are due to the lack of expression of this gene in the adrenal zona fasciculata/reticularis resulting from replacement of the CYP11B1 promoter and regulatory sequences by those of CYP11B2.

Affiliations:

Australie, France, Italie
Auvergne-Rhône-Alpes, Piémont, Rhône-Alpes, Île-de-France
Lyon, Paris, Turin

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Le document en format XML

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<author><name sortKey="Portrat, Stephanie" sort="Portrat, Stephanie" uniqKey="Portrat S" first="Stephanie" last="Portrat">Stephanie Portrat</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11β-hydroxylase) and CYP11B2 (aldosterone synthase) cause steroid 11β-hydroxylase deficiency and congenital adrenal hyperplasia</title>
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<series><title level="j" type="main">The Journal of clinical endocrinology and metabolism</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aldosterone</term>
<term>Congenital adrenal hyperplasia syndrome</term>
<term>Deficiency</term>
<term>Deletion</term>
<term>Gene rearrangement</term>
<term>Genetic determinism</term>
<term>Homozygosity</term>
<term>Human</term>
<term>Hybrid gene</term>
<term>Steroid 11β-monooxygenase</term>
<term>Synthase</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Hyperplasie surrénale congénitale syndrome</term>
<term>Steroid 11β-monooxygenase</term>
<term>Déficit</term>
<term>Déterminisme génétique</term>
<term>Délétion</term>
<term>Homozygotie</term>
<term>Gène hybride</term>
<term>Réarrangement génique</term>
<term>Aldostérone</term>
<term>Synthase</term>
<term>Homme</term>
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<front><div type="abstract" xml:lang="en">Chromosomal rearrangements are natural experiments that can provide unique insights into in vivo regulation of genes and physiological systems. We have studied a patient with congenital adrenal hyperplasia and steroid 11β-hydroxylase deficiency who was homozygous for a deletion of the CYP11B1 and CYP11B2 genes normally required for cortisol and aldosterone synthesis, respectively. The genes were deleted by unequal recombination between the tandemly arranged CYP11B genes during a previous meiosis, leaving a single hybrid gene consisting of the promoter and exons 1-6 of CYP11B2 and exons 7-9 of CYP11B1. The hybrid gene also carried an I339T mutation formed by intracodon recombination at the chromosomal breakpoint. The mutant complementary DNA corresponding to this gene was expressed in COS-1 cells and was found to have relatively unimpaired 11β-hydroxylase and aldosterone synthase activities. Apparently the 11β-hydroxylase deficiency and the adrenal hyperplasia are due to the lack of expression of this gene in the adrenal zona fasciculata/reticularis resulting from replacement of the CYP11B1 promoter and regulatory sequences by those of CYP11B2.</div>
</front>
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<country name="Australie"><noRegion><name sortKey="Curnow, Kathleen M" sort="Curnow, Kathleen M" uniqKey="Curnow K" first="Kathleen M." last="Curnow">Kathleen M. Curnow</name>
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Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11β-hydroxylase) and CYP11B2 (aldosterone synthase) cause steroid 11β-hydroxylase deficiency and congenital adrenal hyperplasia

Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11β-hydroxylase) and CYP11B2 (aldosterone synthase) cause steroid 11β-hydroxylase deficiency and congenital adrenal hyperplasia

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri