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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Immunoelectron microscopic localization of 3beta-hydroxysteroid dehydrogenase and type 5 17beta-hydroxysteroid dehydrogenase in the human prostate and mammary gland
TL;DR: The present data on the localization of two steroidogenic enzymes leading to the synthesis of testosterone indicate that these enzymes are located not only in epithelial cells but also in stromal and endothelial cells in both tissues studied.
Journal ArticleDOI
17β-hydroxysteroid dehydrogenase 3 deficiency in women
Berenice B. Mendonca,Ivo J.P. Arnhold,Walter Bloise,Steffan Andersson,David W. Russell,Jean D. Wilson +5 more
TL;DR: Seven women who are sisters of men with 17HSD3 deficiency and who are either homozygotes or compound heterozytotes for the same mutations as their affected brothers are ascertained, confirming the concept that women with such mutations are asymptomatic.
Journal ArticleDOI
Effect of agropesticides use on male reproductive function: a study on farmers in Djutitsa (Cameroon).
Faustin Pascal Tsagué Manfo,Faustin Pascal Tsagué Manfo,Paul F. Moundipa,Henri Déchaud,Ang`le Nkouatchoua Tchana,Edouard Akono Nantia,Marie-Thérèse Zabot,Michel Pugeat +7 more
TL;DR: The results suggest that male farmers of Djutitsa (West Cameroon) are exposed to agropesticides due to improper protective tool, and this exposure may impair their reproductive function through inhibition of testosterone synthesis; probably by inhibition of testicular 17β‐ hydroxysteroid dehydrogenase (17HSD3) and induction of aromatase (CYP19).
Journal ArticleDOI
Zebrafish 17beta-hydroxysteroid dehydrogenases: an evolutionary perspective.
Rebekka Mindnich,Jerzy Adamski +1 more
TL;DR: Findings reflect on two aspects: (1) the evolutionary origin of steroid-specific enzymes and (2) a possible conservation of steroid hormone function in invertebrates through currently unknown mechanisms.
Journal ArticleDOI
Amino acid substitution of arginine 80 in 17β-hydroxysteroid dehydrogenase type 3 and its effect on NADPH cofactor binding and oxidation/reduction kinetics
Brian M. McKeever,Barton K Hawkins,Wayne M. Geissler,Ling Wu,Robert P. Sheridan,Ralph T. Mosley,Stefan Andersson +6 more
TL;DR: To qualitatively assess the role arginine 80 plays in both selecting and stabilizing NADPH binding, it was replaced with each amino acid and the mutant enzymes subjected to enzymatic analysis and in no case was NADH found to substitute for NADPH.
References
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Book
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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.
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Cloning, structure and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase
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