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
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Journal ArticleDOI
Androgen receptor-related diseases: what do we know?
TL;DR: An overview of the function of androgens and androgen–AR mediated diseases and the potential therapeutic application of most recent pharmaceuticals including miRNAs in prostate cancer that specifically target the transactivation function of the AR at post‐transcriptional stages are presented.
Patent
Sclerostin-binding antibody
Christopher Paszty,Robinson Martyn Kim,Graham Kevin,Alistair James Henry,Hoffmann Kelly Sue,John Latham,Alastair Lawson,Hsieng Sen Lu,Andy Popplewell,Shen Wenyan,David Winkler,Aaron George Winters +11 more
TL;DR: In this article, compositions and methods relating to epitopes of sclerostin protein and binding agents, such as antibodies capable of binding to SCLs, are provided.
Journal ArticleDOI
Characterization of molecular and catalytic properties of intact and truncated human 17beta-hydroxysteroid dehydrogenase type 2 enzymes: intracellular localization of the wild-type enzyme in the endoplasmic reticulum.
T. J. Puranen,R. M. Kurkela,Jouni Lakkakorpi,Matti H. Poutanen,P. V. Itäranta,J. P. J. Melis,Debashis Ghosh,Reijo Vihko,Pirkko Vihko,Pirkko Vihko +9 more
TL;DR: The broad substrate specificity of human 17HSD type 2 together with its predominant oxidative activity and intracellular location, as observed in this study, indicate the physiological role of the enzyme to be primarily an inactivator of highly active 17beta-hydroxysteroids.
Journal ArticleDOI
Complementary Deoxyribonucleic Acid Cloning and Enzymatic Characterization of a Novel 17β/3α-Hydroxysteroid/Retinoid Short Chain Dehydrogenase/Reductase1
Jian Su,Min Lin,Joseph L. Napoli +2 more
TL;DR: Cloning and expression of a complementary DNA that encodes a new mouse liver microsomal member of the short chain dehydrogenase/reductase (SDR) superfamily and its enzymatic characterization are reported, providing additional insight into the enzymology of estrogen, androgen, and retinoid metabolism.
Journal ArticleDOI
17β-Hydroxysteroid Dehydrogenases in Human Bone Cells
TL;DR: Bone cells have the capacity to interconvert circulating estrogens and suggest that bone cell 17β‐HSDs serve primarily to attenuate the continuing actions of estradiol through conversion to its less potent form, estrone, under certain conditions.
References
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Book
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Journal ArticleDOI
Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes.
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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
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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.