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

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 7, 2001, Pages 3197-3201

  Portrat, Stephanie ^a   Mulatero, Paolo ^b   Curnow, Kathleen M ^c,f   Chaussain, Jean Louis ^d   Morel, Yves ^a   Pascoe, Leigh ^e  

^a HÔPITAL DEBROUSSE   (France)

^b UNIVERSITY OF TURIN   (Italy)

^c BAKER IDI HEART AND DIABETES INSTITUTE   (Australia)

^d HÔPITAL SAINT VINCENT DE PAUL   (France)

^e FONDATION JEAN DAUSSET CEPH   (France)

^f Pharmacia Australia   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; ALDOSTERONE SYNTHASE; HYDROCORTISONE; STEROID 11BETA MONOOXYGENASE;

ADRENAL CORTEX; ARTICLE; CASE REPORT; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; CONGENITAL ADRENAL HYPERPLASIA; CROSSING OVER; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; GENE CONTROL; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE STRUCTURE; GENETIC RECOMBINATION; HOMOZYGOSITY; HORMONE SYNTHESIS; HUMAN; HYBRID GENE; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; ZONA FASCICULATA;

ADRENAL HYPERPLASIA, CONGENITAL; ALDOSTERONE; ALDOSTERONE SYNTHASE; ANDROSTENEDIONE; ANIMALS; BLOTTING, SOUTHERN; CHILD, PRESCHOOL; CORTODOXONE; COS CELLS; CROSSING OVER, GENETIC; CYPROTERONE ACETATE; DNA, COMPLEMENTARY; EXONS; GENE DELETION; GENE EXPRESSION; HOMOZYGOTE; HUMANS; MALE; POLYMERASE CHAIN REACTION; PROMOTER REGIONS (GENETICS); PUBERTY, PRECOCIOUS; RENIN; STEROID 11-BETA-HYDROXYLASE; TRANSFECTION;

EID: 0034914294     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.86.7.3197     Document Type: Article

References (19)

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6. Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2
7. Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11)
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9. A chimaeric 11β-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension
10. Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. A study of 25 patients
11. 448-His) associated with steroid 11β-hydroxylase deficiency in Jews of Moroccan origin
12. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8
13. CYP11B1 mutations causing congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
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16. Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene
17. 320Ala convert the cortisol producing enzyme, CYP11B1, into an aldosterone producing enzyme
18. Recombinant CYP11B genes encode enzymes that can catalyze conversion of 11-deoxycortisol to cortisol, 18-hydroxycortisol, and 18-oxocortisol
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