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
Localization of five steroidogenic enzyme mRNAs in Japanese black bear (Ursus thibetanus japonicus) testes during the mating season by in situ hybridization.
Ruriko Iibuchi,Michito Shimozuru,Akari Kamine,Junko Nio-Kobayashi,Toshihiko Iwanaga,Toshio Tsubota +5 more
TL;DR: The results suggest the possibility of testosterone and estradiol-17beta synthesis inside the seminiferous tubules in the bear testis.
Dissertation
The design and synthesis of novel 17β hydroxysteroid dehydrogenase inhibitors as anti-cancer agents
TL;DR: It can be tentatively concluded that STX1040 1 acts a mixed site inhibitor for both the E2 and co-factor binding sites and the 2-substituted Mannich compound 127 acts as a competitive inhibitor for the E1 binding site and a non-competitive inhibitor forThe co-Factor binding site, however further experimentation is required to confirm these preliminary results.
Journal ArticleDOI
Reduction of photoswitched, nitrogen bridged N-acetyl diazocines limits inhibition of 17βHSD3 activity in transfected human embryonic kidney 293 cells.
TL;DR: In this paper , the effect of photoisomers on 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) inhibition was examined in transfected human embryonic kidney 293 cells (HEK-293) and isolated microsomes.
References
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Book
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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.