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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Proteomic approaches to dissect platelet function: half the story
TL;DR: This review focuses on current advances in platelet proteomic studies, with emphasis on the importance of parallel transcriptomic studies to optimally dissect platelet function.
Journal ArticleDOI
Crystal structures of the multispecific 17beta-hydroxysteroid dehydrogenase type 5: critical androgen regulation in human peripheral tissues
TL;DR: The first structure of a human type 5 17β-hydroxysteroid dehydrogenase (17β-HSD5;AKR1C3) was reported in this paper.
Journal ArticleDOI
Characterization of 17β-hydroxysteroid dehydrogenase isoenzyme expression in benign and malignant human prostate.
Jussi P. Elo,Lateef A. Akinola,Matti Poutanen,Pirkko Vihko,Atte P. Kyllönen,Olavi Lukkarinen,Reijo Vihko +6 more
TL;DR: It is suggested that the 17HSD type 2 isoenzyme plays a part in the metabolic pathway, resulting in the inactivation of testosterone and 5α‐dihydrotestosterone locally in the prostate, and could protect cells from excessive androgen action.
Journal ArticleDOI
17β‐hydroxysteroid dehydrogenases in normal human mammary epithelial cells and breast tissue
Minna M. Miettinen,Mika Mustonen,Matti Poutanen,V. Isomaa,Marie Wickman,Gunnar Söderqvist,Reijo Vihko,Pirkko Vihko +7 more
TL;DR: The data strongly suggest that in mammary epithelial cell lines the oxidative activity is due to type 2 17HSD and that oxidation of 17β‐hydroxysteroids is not the primary activity of the 17 HSD type 4 enzyme.
Journal ArticleDOI
Platelets express steroidogenic 17β-hydroxysteroid dehydrogenases Distinct profiles predict the essential thrombocythemic phenotype
Dmitri V. Gnatenko,Lisa D. Cupit,Emily C. Huang,Anilkumar Dhundale,Peter L. Perrotta,Wadie F. Bahou +5 more
TL;DR: These data provide the first evidence that distinct subtypes of steroidogenic 17beta-HSDs are functionally present in human blood platelets, and that the expression patterns of HSD17B3 and H SD17B12 are associated with an uncommon platelet disorder manifest by quantitative and qualitative platelet defects.
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.
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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
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