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, ISSN: 0021-972X, Vol: 86, Issue: 7, Page: 3197-3201
2001
- 42Citations
- 21Captures
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Metrics Details
- Citations42
- Citation Indexes42
- 42
- CrossRef11
- Captures21
- Readers21
- 11
- 10
Article Description
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.
Bibliographic Details
http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=0034914294&origin=inward; http://dx.doi.org/10.1210/jc.86.7.3197; http://dx.doi.org/10.1210/jcem.86.7.7671; http://www.ncbi.nlm.nih.gov/pubmed/11443188; http://press.endocrine.org/doi/10.1210/jcem.86.7.7671; https://academic.oup.com/jcem/article-lookup/doi/10.1210/jcem.86.7.7671
The Endocrine Society
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