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
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The selective estrogen enzyme modulator (SEEM) in breast cancer.
G.S Chetrite,J.R Pasqualini +1 more
TL;DR: The exploration of various progestins and other active agents in trials with breast cancer patients, showing an inhibitory effect on sulfatase and 17beta-hydroxysteroid dehydrogenase, or a stimulatory effect on sulphotransferase, will provide a new possibility in the treatment of this disease.
Journal ArticleDOI
The human type II 17 beta-hydroxysteroid dehydrogenase gene encodes two alternatively spliced mRNA species.
Yvan Labrie,Francine Durocher,Yves Lachance,Carl Turgeon,Jacques Simard,Claude Labrie,Fernand Labrie +6 more
TL;DR: The type II 17 beta-HSD type II gene provides the tools to study its transcriptional expression and has been localized in a region between 179 and 167 nucleotides upstream of the ATG start codon by RNase protection and S1 nuclease mapping analyses.
Journal ArticleDOI
17β-Hydroxysteroid dehydrogenase 3 deficiency
TL;DR: The usual mechanism for testosterone formation in affected individuals at puberty appears to be conversion of androstenedione to testosterone in extraglandular tissues by one or more of the unaffected 17β-hydroxysteroid dehydrogenase isoenzymes.
Journal ArticleDOI
The effect of obesity on the ratio of type 3 17β-hydroxysteroid dehydrogenase mRNA to cytochrome P450 aromatase mRNA in subcutaneous abdominal and intra-abdominal adipose tissue of women
A Corbould,A Corbould,Michael J. Bawden,Michael J. Bawden,T. C. Lavranos,Raymond J. Rodgers,Stephen John Judd +6 more
TL;DR: The intra-abdominal adipose tissue of women may be substantially androgenic, increasingly so with increasing obesity, particularly central obesity, these studies suggest a mechanism linking central obesity with insulin resistance and dyslipidaemia.
Journal ArticleDOI
17β-Hydroxysteroid Dehydrogenase Type XI Localizes to Human Steroidogenic Cells
Zhonglin Chai,Phillip S. Brereton,Takashi Suzuki,Hironobu Sasano,Varuni R. Obeyesekere,Geneviève Escher,Richard Saffery,Peter J. Fuller,Carla Enriquez,Zygmunt Krozowski +9 more
TL;DR: Another isoform of 17β-hydroxysteroid dehydrogenase, 17βHSDXI is identified and it is found that this enzyme converts 5α-androstane-3α, 17 β-diol to androsterone and is implicated in supporting gestation and modulating γ-aminobutyric acid receptor activity.
References
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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.
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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.