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
More filters
Journal ArticleDOI
The proximal promoter region of the gene encoding human 17beta-hydroxysteroid dehydrogenase type 1 contains GATA, AP-2, and Sp1 response elements: analysis of promoter function in choriocarcinoma cells.
TL;DR: Three regulatory elements in the proximal 5′-flanking regions of the HSD17B1 gene are characterized, implying that AP-2 can repress the function ofThe HSD 17B1 promoter by preventing binding to the Sp1 motif.
Journal ArticleDOI
Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene
A. Richter-Unruh,John W.M. Martens,Miriam Verhoef-Post,H. T. Wessels,W. A. Kors,G. H. G. Sinnecker,Annemie L.M. Boehmer,Stenvert L. S. Drop,Sergio P. A. Toledo,H. G. Brunner,Axel P. N. Themmen +10 more
TL;DR: To further investigate the variety of LH receptor gene mutations present in LCH patients and their influence on the phenotype, 10 nonrelated patients with the clinical presentation of LCH are examined.
Journal ArticleDOI
Identification and characterization of 17β-hydroxysteroid dehydrogenases in the zebrafish, Danio rerio
TL;DR: A functional genomics study of putative candidates of these enzymes in the zebrafish showed nearly identical, ubiquitous expressions in embryogenesis and adult tissues and were identified to be paralogs of HSD17B12 and a yet uncharacterized putative steroid dehydrogenase.
Journal ArticleDOI
Characterization of Aromatase and 17β‐Hydroxysteroid Dehydrogenase Expression in Rat Osteoblastic Cells
Louise J. Eyre,Rosemary Bland,Iwona J. Bujalska,Michael C. Sheppard,Paul M. Stewart,Martin Hewison +5 more
TL;DR: Rat OB cell lines were able to synthesize E1, E2, and testosterone from androstenedione, although activity varied between OB cell types, and data suggest that local synthesis of sex hormones is an important function of OB cells and may play a key role in the modulation of bone turnover independent of circulating hormone concentrations.
Journal ArticleDOI
Effects of sex steroids on proliferation in normal mammary tissue.
TL;DR: The finding of a positive correlation between insulin-like growth factor I messenger RNA and proliferation found in hormonally treated women with low receptor levels suggests the possibility of nonreceptor-mediated effects of sex steroids on proliferation, which needs to be investigated further.
References
More filters
Book
Molecular Cloning: A Laboratory Manual
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.