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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17β-Hydroxysteroid dehydrogenases (17β-HSDs) as therapeutic targets: protein structures, functions, and recent progress in inhibitor development.
Sandrine Marchais-Oberwinkler,Claudia Henn,Gabriele Möller,Tobias Klein,Matthias Negri,Alexander Oster,Alessandro Spadaro,Ruth Werth,Marie Wetzel,Kuiying Xu,Martin Frotscher,Rolf W. Hartmann,Jerzy Adamski +12 more
TL;DR: An overview of functional and structural aspects for the different 17β-HSDs is given and the selective inhibition of the concerned enzymes might provide an effective treatment and a good alternative to the existing endocrine therapies.
Journal ArticleDOI
Androgen biosynthetic pathways in the human prostate
TL;DR: The present chapter reviews the literature obtained from various human, dog, rat and mouse prostate tissues, as well as primary cells and prostatic cancer cell lines, to provide a clearer picture of the pathways involved in DHT biosynthesis and metabolism in the human prostate.
Journal ArticleDOI
Sex steroid-producing enzymes in human breast cancer
Takashi Suzuki,Yasuhiro Miki,Yasuhiro Nakamura,Takuya Moriya,Kiyoshi Ito,Noriaki Ohuchi,Hironobu Sasano +6 more
TL;DR: The enzymes responsible for the intratumoral production of estrogen may not always be the same among breast cancer patients, and not only aromatase but also other enzymes such as STS and 17betaHSD1 may have important therapeutic potential as targets for endocrine therapy in breast cancers patients.
Journal ArticleDOI
Structure and function of human 17beta-hydroxysteroid dehydrogenases.
TL;DR: Broad and overlapping substrate specificities with enzymes involved in lipid metabolism suggest interactions of several 17β-HSDs with other metabolic pathways, of particular importance in cancer, metabolic diseases, neurodegeneration and possibly immunity.
Journal ArticleDOI
Characterization of Type 12 17β-Hydroxysteroid Dehydrogenase, an Isoform of Type 3 17β-Hydroxysteroid Dehydrogenase Responsible for Estradiol Formation in Women
TL;DR: The results strongly suggest that 17 beta-HSD12 is the major estrogenic 17beta- HSD responsible for the conversion of E1 to E2 in women, especially in the ovary, the predominant source of estrogens before menopause.
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
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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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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.