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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Journal ArticleDOI
Down-regulation of murine testicular 17β-HSD3 and hepatic CYP1A2 enzymes by a bovine testes extract
TL;DR: Findings strongly suggested considering risks versus benefits and raised concerns regarding the use of BTE as an alternative medication or health supplement in andropausal men due to its potential for suppressing expression of both 17β-HSD3 and CYP1A2 mRNAs, testicular enzymes responsible for sex hormone gene synthesis.
Clinical and molecular spectrum of patients with 17b-hydroxysteroid
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,Regina Ferreira Pereira,Roberto Benedito de Paiva,Antonia Paula Marques-de-Faria,Andrea Trevas,Maricilda Palandi de Mello,Gil Guerra-Júnior +13 more
TL;DR: Four patients with the 46,XY karyotype and 17-b -HSD3 deficiency are reported, showing different degrees of genital ambiguity, increased androstenedione and decreased tes - tosterone levels, and testosterone to androstensione ratio G novel mutation, and c.277+4A>T mutation, both located within the intron 3 splice donor site of the HSD17B3 gene.
Book ChapterDOI
Thyroid Hormone Regulation of Mammalian Reproductive Development and the Potential Impact of Endocrine-Disrupting Chemicals
TL;DR: An analysis of the evidence linking thyroidal disruption by polychlorinated biphenyl, polybrominated diphenyl ether, phthalate, triclosan, and bisphenol A exposure, with maldevelopment of mammalian reproductive systems is provided.
Journal ArticleDOI
Description of Chemical Synthesis, Nuclear Magnetic Resonance Characterization and Biological Activity of Estrane-Based Inhibitors/Activators of Steroidogenesis
TL;DR: In this paper , the authors focus on seven inhibitors and an activator of six enzymes involved in steroidogenesis, namely steroid sulfatase, aldo-keto reductase 1C3, types 1, 2, 3, and 12 of the 17β-hydroxysteroid dehydrogenases.
References
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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
Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes.
TL;DR: By analyzing the effects of single base substitutions around the ATG initiator codon in a cloned preproinsulin gene, ACCATGG is identified as the optimal sequence for initiation by eukaryotic ribosomes.
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
PROSITE : a dictionary of sites and patterns in proteins
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.