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
Potential Antiosteoporotic Natural Product Lead Compounds That Inhibit 17β-Hydroxysteroid Dehydrogenase Type 2
Anna Vuorinen,Roger T. Engeli,Susanne Leugger,Fabio Bachmann,Muhammad Safwan Akram,Atanas G. Atanasov,Atanas G. Atanasov,Birgit Waltenberger,Veronika Temml,Hermann Stuppner,Liselotte Krenn,Sylvin Benjamin Ateba,Dieudonné Njamen,Rohan A. Davis,Alex Odermatt,Daniela Schuster +15 more
TL;DR: New 17β-HSD2 inhibitors from nature are described and insights into the binding pocket of 17 β- HSD2 are provided, offering a promising starting point for further research in this area.
Journal ArticleDOI
Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization.
TL;DR: Normal male development requires the combined action of the inhibitory anti-müllerian hormone (AMH) to block the development of the uterus and fallopian tubes from the m Müllerian duct, together with the trophic stimulus of testosterone (a Leydig cell product), which leads to virilization of the wolffian ducts.
Journal ArticleDOI
17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene.
TL;DR: A 16-year-old 46,XY patient with 17βHSD-3 deficiency raised as a female and significantly virilized in puberty is reported, the second reported case with this deletion.
Journal ArticleDOI
17β-HSD type 5 expression and the emergence of differentiated epithelial Type II cells in fetal lung: A novel role for androgen during the surge of surfactant
Yves Tremblay,Pierre R. Provost +1 more
TL;DR: The expression profile of the 17beta-HSD type 5 gene does not explain the presence of higher levels of androgens in the male fetal lung but that androgen synthesis must be a normal characteristic of mature PTII cells for both sexes.
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.