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
Dissertation
Androgens and the masculinisation programming window
TL;DR: The studies reported in this thesis show that neith er availability of androgens nor the AR are important in determining onset of the MPW, and providing exogenous androgens either prior to or duringThe MPW does not advance or nhance masculinisation, and females may have a slightl y different window of susceptibility to androgen action.
Journal Article
[Intracrinology and dehydroepiandrosterone--a new perspective for the use of androgens in hormone replacement therapy in postmenopausal women].
TL;DR: DHEA administration to postmenopausal women significantly increases bone mineral density decreases insulin resistance and amount of fat tissue and exerts an estrogenic effect on vaginal cytology in the absence of endometrial stimulation, yet another reason to consider this steroid as a part of hormone replacement therapy in women.
Journal ArticleDOI
Androgen-Metabolic Genes in Prostate Cancer Predisposition and Progression
TL;DR: Current and future data on individual markers and genes should be integrated into a comprehensive, pathway-based picture that includes constitutional DNA ( for prostate cancer susceptibility) and tumor DNA (for disease progression) that may lead to a comprehensive genetically based risk and progression assessment algorithm.
Journal ArticleDOI
Altered Expression of 3β-HSD, CYP17 and 17β-HSD in the Foetal Porcine Gonads in Response to Anti-androgen Flutamide Exposure
TL;DR: In this article, the authors investigated whether the limited access to androgens during late prenatal period alters expression of steroidogenic enzymes involved in androgen production: 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase (3β-HSD), cytochrome P450 17α-hydroxylase/17,20-lyase (CYP17), and 17β- hydroxylases type 1 (17β-HDSD1) or type 3 (17 β-SHD3) in the foet
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.