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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Castration inhibits biliary proliferation induced by bile duct obstruction: novel role for the autocrine trophic effect of testosterone
Fuquan Yang,Sally Priester,Paolo Onori,Julie Venter,Anastasia Renzi,Antonio Franchitto,Kamruzzaman Munshi,Candace Wise,David E. Dostal,Marco Marzioni,Stefania Saccomanno,Yoshiyuki Ueno,Eugenio Gaudio,Shannon Glaser +13 more
TL;DR: The hypothesis that testosterone is an autocrine trophic factor stimulating biliary growth is tested and it is found that cholangiocytes and NRICC expressed AR and drug targeting of 17β-HSD3 may be important for managing cholangsiopathies.
Journal ArticleDOI
Subcellular localization and membrane topology of 17β-hydroxysteroid dehydrogenases.
Maria Tsachaki,Alex Odermatt +1 more
TL;DR: The present knowledge on the subcellular localization and membrane topology of the 17β-HSD enzymes is summarized and the correlation with their biological functions is discussed.
Journal ArticleDOI
Assessment of steroidogenic pathways that do not require testosterone as intermediate.
TL;DR: A review of early literature about patients with testicular 17β-HSD deficiency and of steroid metabolism appears to confirm the physiological functionality of the E2 and DHT biosynthetic pathway not requiring T as intermediate (noTpath).
Journal ArticleDOI
STX2171, a 17β-hydroxysteroid dehydrogenase type 3 inhibitor, is efficacious in vivo in a novel hormone-dependent prostate cancer model
Joanna M. Day,Paul A. Foster,Helena J. Tutill,Fabien Schmidlin,Christopher M Sharland,Jonathan D Hargrave,Nigel Vicker,Potter Barry Victor Lloyd,Michael J Reed,Atul Purohit +9 more
TL;DR: STX2171 and STX1383 significantly lower plasma testosterone levels and inhibit androgen-dependent tumour growth in vivo, indicating that 17β-HSD3 inhibitors may have application in the treatment of hormone-dependent prostate cancer.
References
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Book
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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.
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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.