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
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Journal ArticleDOI
Identification of novel functional inhibitors of 17β-hydroxysteroid dehydrogenase type III (17β-HSD3)
Thomas E. Spires,Brian E. Fink,Ellen K. Kick,Dan You,Cheryl A. Rizzo,Ivone M. Takenaka,R. Michael Lawrence,Zheming Ruan,Mark E. Salvati,Gregory D. Vite,Roberto Weinmann,Ricardo M. Attar,Marco M. Gottardis,Matthew V. Lorenzi +13 more
TL;DR: Endocrine therapy of prostate cancer (PCa) relies on agents which disrupt the biosynthesis of testosterone in the testis and/or by direct antagonism of active hormone on the androgen receptor (AR) in non‐gonadal target tissues of hormone action such as the prostate.
Book ChapterDOI
Leydig cell function and its regulation.
Mark P. Hedger,D. M. De Kretser +1 more
TL;DR: The non-androgenic functions of the Leydig cell have received comparatively little attention in the past, but are likely to excite far more interest as the understanding of the cellular and molecular environment of the testis develops.
Journal ArticleDOI
Essential role of adenosine triphosphate in activation of 17beta-hydroxysteroid dehydrogenase in the rat Leydig cell.
TL;DR: The forskolin-induced steroidogenic block of testosterone production residing beyond pregnenolone synthesis in rat Leydig cells was localized to the level of the 17β-hydroxysteroid dehydrogenase (17βHSD) reaction in this study, revealing that the block is related to inhibition of glucose transporter(s).
Journal ArticleDOI
The structure-activity relationship (SAR) for phthalate-mediated developmental and reproductive toxicity in males
TL;DR: Of phthalates of straight side chains, C5-C6 ones are the most potent, C4 or C7 are moderate, C3 is weakest, and C1-2 or C8-13 are ineffective and the cycling of side chains does not increase the toxicity.
Journal ArticleDOI
Expression of 17β-Hydroxysteroid Dehydrogenase Type 5 in Human Ovary: A Pilot Study:
Ke-nan Qin,Robert L. Rosenfield +1 more
TL;DR: The data suggest that 17β-HSD5 may play a major role in testosterone biosynthesis by the human ovary, and further investigation of the regulation of 17 β- HSD5 gene expression is warranted.
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.
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.