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
Molecular genetics of androgenic 17β-Hydroxysteroid dehydrogenases
TL;DR: 17β-HSD type 3 catalyzes the NADPH-dependent conversion of androstenedione to testosterone in the testis, and the genetic disease 17β- HSD deficiency is caused by mutations in the 17β -HSD3 gene.
Journal ArticleDOI
Ontogeny of 17β-hydroxysteroid dehydrogenase type 2 mRNA expression in the developing mouse placenta and fetus
Mika Mustonen,Matti Poutanen,Anne Chotteau-Lelievre,Yvan de Launoit,V. Isomaa,Seppo Vainio,Reijo Vihko,Pirkko Vihko +7 more
TL;DR: The expression pattern of 17HSD type 2 in the developing placenta and fetus suggests a role for the enzyme in maintaining a barrier to the transfer of active 17-hydroxy forms of sex steroids between the fetus and maternal circulation.
Journal ArticleDOI
Tissue-specific transcription profiles of sex steroid biosynthesis enzymes and the androgen receptor
U. Hoppe,Paul-Martin Holterhus,Lutz Wünsch,D. Jocham,T. Drechsler,Susanne Thiele,Christine Marschke,Olaf Hiort +7 more
TL;DR: It is concluded that sex steroid enzymes are expressed not only in genital primary target tissues but also in peripheral blood and the expression in different target tissues may contribute to both the individual sexual and tissue-specific phenotype in humans.
Journal ArticleDOI
Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.
Carla Cristina Telles de Sousa Castro,Guilherme Guaragna-Filho,Flávia Leme de Calais,Fernanda Borchers Coeli,Ianik Rafaela Lima Leal,Erisvaldo Ferreira Cavalcante-Junior,Isabella Lopes Monlleó,Silma Regina Ferreira Pereira,Roberto Benedito de Paiva e Silva,José Roberto Erbolato Gabiatti,Antonia Paula Marques-de-Faria,Andréa Trevas Maciel-Guerra,Maricilda Palandi de Mello,Gil Guerra-Júnior +13 more
TL;DR: Four patients with the 46,XY karyotype and 17-β-HSD3 deficiency are reported, showing different degrees of genital ambiguity, increased androstenedione and decreased testosterone levels, and testosterone to androstensione ratio < 0.8.
Journal ArticleDOI
3β-Hydroxysteroid Dehydrogenase/Δ5→4-Isomerase Activity Associated with the Human 17β-Hydroxysteroid Dehydrogenase Type 2 Isoform1
TL;DR: A dual steroidogenic activity of the 17βHSD2 enzyme is established after transfection of human 17β HSD2-transfected human embryonic kidney (293) cells to obtain a better understanding of the regulation of local steroid biosynthesis and metabolism in human tissues.
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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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.