Assignment of the human 3β-hydroxysteroid dehydrogenase gene (HSDB3) to the p13 band of chromosome 1
- 1 January 1989
- journal article
- research article
- Published by S. Karger AG in Cytogenetic and Genome Research
- Vol. 52 (3-4) , 199-200
- https://doi.org/10.1159/000132878
Abstract
Three-β-hydroxysteroid dehydrogenase (HSDB3) is the enzyme which catalyses the oxidative conversion of Δ5–3β-hydroxy steroids to the Δ4–3-keto configuration and is therefore involved in the biosynthesis of all classes of hormonal steroids, namely progesterone, glucocorticoids, mineralocorticoids, androgens, and estrogens. Deficiency of the enzyme is associated with congenital adrenal hyperplasia and is usually lethal in early life. Despite its crucial role, chromosome assignment of the gene for this enzyme has not been reported. Using in situ hybridization, we report that hybridization with labeled human HSDB3-specific cDNA yielded 27% of silver grains associated with chromosome 1 with a maximal concentration in the p13 band.This publication has 8 references indexed in Scilit:
- Human placental 3β-hydroxy-5-ene-steroid dehydrogenase and steroid 5→ 4-ene-isomerase: Purification from mitochondria and kinetic profiles, biophysical characterization of the purified mitochondrial and microsomal enzymesJournal of Steroid Biochemistry, 1989
- DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosomeHuman Genetics, 1985
- Localization of the thyroglobulin gene by in situ hybridization to human chromosomesHuman Genetics, 1985
- Nonsalt-Losing Congenital Adrenal Hyperplasia due to 3β-Hydroxysteroid Dehydrogenase Deficiency with Normal Glomerulosa Function*Journal of Clinical Endocrinology & Metabolism, 1983
- The activity of 3β-hydroxysteroid dehydrogenase and Δ4–5isomerase in human follicular tissueAmerican Journal of Obstetrics and Gynecology, 1983
- Pubertal Presentation of Congenital Δ5–-3β–Hydroxysteroid Dehydrogenase Deficiency*Journal of Clinical Endocrinology & Metabolism, 1980
- Four Clinical Variants of Congenital Adrenal HyperplasiaArchives of Disease in Childhood, 1964
- THE ADRENOGENITAL SYNDROME WITH DEFICIENCY OF 3β-HYDROXYSTEROID DEHYDROGENASE*Journal of Clinical Investigation, 1962