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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Book ChapterDOI
46,XY differences of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency
TL;DR: In this paper , epidemiological, clinical, hormonal, genetical findings and also the long-term outcomes of 46,XY individuals with 17β-HSD3 deficiency based on the review of previously reported cases and also their own cases.
Book ChapterDOI
Steroidogenesis across species: aldo keto reductases in marsupials, fish and humans
TL;DR: In this paper , it was shown that fetal dihydrotestosterone acts both hormonally and as a paracrine factor, substantially revising the classic paradigm for fetal male sexual development.
Mutation Present with Only a Mild Common Human 13-Base Pair Deletion Aire-Deficient C57BL/6 Mice Mimicking the
William R. Heath,Gordon K. Smyth,E Stylianos,Raivo Uibo,Moira K O'Bryan,Anthony Meager,Ping Cannon,Kylie E. Webster,Maire Link,François-Xavier Hubert,Sarah Kinkel,E Pauline +11 more
Book ChapterDOI
Compréhension de l’anatomie et des fonctions normales
Andreas Meinhardt,Y. L. Giwercman,A. Nordenskjöld,Martin Bergmann,Omer Baldo,Ian Eardley,H.-C. Schuppe,Frank Comhaire,A. Mahmoud,H. J. Tournaye +9 more
TL;DR: The testicule is a deux fonctions essentielles : the production of gametes males, les spermatozoides, dans un processus appele la spermatogenese et la synthese and the liberation controlee de testosterone comme principal androgene, denommee the steroidogenese.
Book ChapterDOI
Androgen Biosynthetic Defects: 17β-HSD Type 3 and 5α-RD Type 2 Deficiencies
TL;DR: Clinical, hormonal, psychosexual and long term outcomes, highlighting similarities and differences between these DSD 46,XY conditions are discussed.
References
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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.