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
Syndrome of alopecia totalis and 17b-hydroxysteroid dehydrogenase deficiency.
TL;DR: A distinct and previously undescribed syndrome of alopecia totalis, ichthyosis, and male pseudohermaphroditism due to steroid 17b-hydroxysteroid dehydrogenase deficiency was observed in an Israeli-Arab newborn infant.
Journal ArticleDOI
Antioxidants (selenium and garlic) alleviated the adverse effects of tramadol on the reproductive system and oxidative stress markers in male rabbits
TL;DR: In this article , the effects of tramadol on male rabbits' fertility and protein expression of different cytochrome P450 isozymes (CYP 21A2, CYP 19, and 11A1) were investigated.
Charakterisierung neuer Mitglieder der Short-Chain-Dehydrogenase/Reduktase-Proteinfamilie
TL;DR: In this paper, a comparative analysis of Short-Chain-Dehydrogenasen/Reduktasen (SDRs) enzymfamilie is presented.
Multifunctionality in the enzyme family of 17beta-hydroxysteroid dehydrogenases
TL;DR: In this work protein multifunctionality was investigated in three representatives of the enzyme family of 17beta-hydroxysteroid dehydrogenases (17beta-HSDs) and an amino acid crucial for the discrimination of steroid and retinoid substrates was identified.
Book ChapterDOI
88 – Disorders in Male Sexual Differentiation: Molecular Genetics, Gender Identity, and Cognition
TL;DR: By discussing subjects with defects in androgen production and action, particularly those with 17β-hydroxysteroid dehydrogenase-3 deficiency, 5α-reductase-2 deficiency, and androgen insensitivity syndrome, the roles of androgens in male sexual differentiation, gender identity, and cognitive function are emphasized.
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.
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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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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.