Journal ArticleDOI
Male pseudohermaphroditism caused by mutations of testicular 17β-hydroxysteroid dehydrogenase 3
Wayne M. Geissler,Daphne L. Davis,Ling Wu,Karen D. Bradshaw,S. Patel,Berenice B. Mendonca,Keith O. Elliston,Jean D. Wilson,David W. Russell,Stefan Andersson +9 more
TLDR
Four substitution and two splice junction mutations were identified in the 17βHSD3 genes of five unrelated male pseudohermaphrodites that severely compromised the activity of the 17 β–HSD type 3 isozyme.Abstract:
Defects in the conversion of androstenedione to testosterone in the fetal testes by the enzyme 17β–hydroxysteroid dehydrogenase (17β–HSD) give rise to genetic males with female external genitalia. We have used expression cloning to isolate cDNAs encoding a microsomal 17β–HSD type 3 isozyme that shares 23% sequence identity with other 1 7β–HSD enzymes, uses NADPH as a cofactor, and is expressed predominantly in the testes. The 17βHSD3 gene on chromosome 9q22 contains 11 exons. Four substitution and two splice junction mutations were identified in the 17βHSD3 genes of five unrelated male pseudohermaphrodites. The substitution mutations severely compromised the activity of the 17β–HSD type 3 isozyme.read more
Citations
More filters
Journal ArticleDOI
Effect of resistance exercise on muscle steroidogenesis
Jakob L. Vingren,William J. Kraemer,Disa L. Hatfield,Jeffrey M. Anderson,Jeff S. Volek,Nicholas A. Ratamess,Gwendolyn A. Thomas,Jen Yu Ho,Maren S. Fragala,Carl M. Maresh +9 more
TL;DR: Findings indicate that species differences in muscle testosterone production may exist between rats and humans, and in humans, muscle testosterone concentrations do not appear to be affected by RE.
Journal ArticleDOI
Spironolactone-related inhibitors of type II 17β-hydroxysteroid dehydrogenase: chemical synthesis, receptor binding affinities, and proliferative/antiproliferative activities
Martin R. Tremblay,Van Luu-The,Gilles Leblanc,Patricia Noël,Esther Breton,Fernand Labrie,Donald Poirier +6 more
TL;DR: It was found that a para-substituted benzylthio group at the 7alpha-position enhances the inhibitory potency of spironolactone derivatives on type II 17beta-HSD, and offer an interesting tool to study the regulation of this enzyme in several biological systems.
Journal ArticleDOI
Efficient testosterone production by engineered Pichia pastoris co-expressing human 17β-hydroxysteroid dehydrogenase type 3 and Saccharomyces cerevisiae glucose 6-phosphate dehydrogenase with NADPH regeneration
Shao Minglong,Xian Zhang,Zhiming Rao,Meijuan Xu,Yang Taowei,Hui Li,Zhenghong Xu,Shang-Tian Yang +7 more
TL;DR: This study indicated that the recombinant P. pastoris harboring 17β-HSD3 and G6PDH could be a promising candidate to produce TS in the pharmaceutical industry.
Journal ArticleDOI
Expression of five steroidogenic genes including aromatase gene at early developmental stages of chicken male and female embryos.
TL;DR: The onset of P-450arom gene expression at day 5 coincides with the stage of gonadal differentiation, corroborating the role of estrogen in the process of Gonadal differentiation in chicken.
Journal ArticleDOI
Localisation and regulation of 17β-hydroxysteroid dehydrogenase type 3 mRNA during development in the mouse testis
TL;DR: Results show that 17betaHSD type 3 is an interstitial enzyme in the testis and is, probably, localised in the Leydig cells.
References
More filters
Book
Molecular Cloning: A Laboratory Manual
TL;DR: Molecular Cloning has served as the foundation of technical expertise in labs worldwide for 30 years as mentioned in this paper and has been so popular, or so influential, that no other manual has been more widely used and influential.
Journal ArticleDOI
Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes.
TL;DR: By analyzing the effects of single base substitutions around the ATG initiator codon in a cloned preproinsulin gene, ACCATGG is identified as the optimal sequence for initiation by eukaryotic ribosomes.
Journal ArticleDOI
Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme.
TL;DR: The structure of the sterol 26-hydroxylase cDNA reveals it to be a mitochondrial cytochrome P-450, and blotting experiments revealed that the mRNA for this enzyme is expressed in many tissues and that it is encoded by a low copy number gene in the rabbit genome.
Journal ArticleDOI
PROSITE : a dictionary of sites and patterns in proteins
TL;DR: A dictionary of sites and patterns found in protein sequences, developed, in the last two years, by the author, which is called PROSITE.
Cloning, structure and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase
TL;DR: In this article, the authors used protein sequencing and molecular cloning techniques to isolate and characterize a cDNA encoding the rabbit mitochondrial sterol 26-hydroxylase, which catalyzes the first step in the oxidation of the side chain of sterol intermediates in the biosynthesis of bile acids.