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
Expression of mRNA for androgen receptor, 5alpha-reductase and 17beta-hydroxysteroid dehydrogenase in human dermal papilla cells.
TL;DR: The results suggest that the sensitivity of hairs to androgen is partially controlled by the site‐specific expression of AR, 5α‐reductase and 17β‐HSD in DPCs.
Journal ArticleDOI
46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.
Berenice B. Mendonca,Nathalia Lisboa Gomes,Elaine Maria Frade Costa,Marlene Inácio,Regina Matsunaga Martin,Mirian Yumie Nishi,Filomena Marino Carvalho,Francisco Denes Tibor,Sorahia Domenice +8 more
TL;DR: The proposal in this article is to review the previously reported cases of 17β-HSD3 deficiency adding the authors' own cases and molecular genetic testing confirms the diagnosis and provides the orientation for genetic counseling.
Journal Article
Prostate Short-Chain Dehydrogenase Reductase 1 (PSDR1): A New Member of the Short-Chain Steroid Dehydrogenase/Reductase Family Highly Expressed in Normal and Neoplastic Prostate Epithelium
Biaoyang Lin,James T. White,Camari Ferguson,Shunyou Wang,Robert L. Vessella,Roger Bumgarner,Lawrence D. True,Leroy Hood,Peter S. Nelson +8 more
TL;DR: A novel gene that is designated prostate short-chain dehydrogenase/reductase 1 (PSDR1), that exhibits increased expression on exposure to androgens in the LNCaP prostate cancer cell line is identified.
Journal ArticleDOI
Expression of 17beta-hydroxysteroid dehydrogenase types 1, 2, 3 and 4 in the human temporal lobe
Birgit Stoffel-Wagner,Matthias Watzka,Stephan Steckelbroeck,Johannes Schramm,JF Bidlingmaier,D Klingmuller +5 more
TL;DR: Together with CYP19AROM and 5alpha-reductase, known to be expressed in the human brain, the expression of 17beta-HSD 1, 3 and 4 mRNAs indicates the major importance of local steroid biosynthesis in the brain.
Journal ArticleDOI
Mouse 17 beta-hydroxysteroid dehydrogenase type 2 mRNA is predominantly expressed in hepatocytes and in surface epithelial cells of the gastrointestinal and urinary tracts
Mika Mustonen,Matti Poutanen,Sakari Kellokumpu,Y. De Launoit,V. Isomaa,Reijo Vihko,Pirkko Vihko +6 more
TL;DR: The results indicate that in both male and female mice, 17HSD type 2 is expressed mainly in the various epithelial cell types of the gastrointestinal and urinary tracts, and therefore suggest a role for the enzyme in steroid inactivation in a range of tissues and cell types not considered as classical sex steroid target 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.
Journal ArticleDOI
Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes.
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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.
Journal ArticleDOI
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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.