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
Major enzymes controlling the androgenic pressure in the developing lung
Yves Tremblay,Pierre R. Provost +1 more
TL;DR: The present review focuses on the major enzymes involved in androgen metabolism within the developing lung, which can become potential pharmaceutical targets in the objective of accelerating lung maturation by specific treatments.
Book ChapterDOI
Developmental and reproductive disorders: role of endocrine disruptors in testicular toxicity
Jaideep S. Toor,Suresh C. Sikka +1 more
TL;DR: Bisphenol A, a strong exogenous estrogen with antiandrogen effect, lowers serum follicle-stimulating hormone, luteinizing hormone, and T, resulting in impaired development of seminiferous tubules and spermatogenesis.
Journal ArticleDOI
A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1
Hanh T. T. Thai,Cilla Söderhäll,Kristina Lagerstedt,Mir Davood Omrani,Louise Frisén,Johanna Lundin,Ingrid Kockum,Agneta Nordenskjöld +7 more
TL;DR: A genome-wide linkage analysis in a three-generational family showing autosomal dominant inheritance of hypospadias suggests a novel hypos padias locus at chromosome 7q32.2-q36.1 that encompasses 18.2 Mb (25 cM) and harbors hundreds of genes.
Journal ArticleDOI
17β-Hydroxysteroid dehydrogenase type 12a responsible for testicular 11-ketotestosterone synthesis in the Japanese eel, Anguilla japonica.
TL;DR: Findings strongly suggested that Hsd17b12a is one of the enzymes with 17KSR activity responsible for 11KT synthesis in the testis of Japanese eel, and the effects of Gths on the 17K SR activity and the expression of the candidate genes in the immature testis.
Journal ArticleDOI
[Corrigendum] Alterations in gene expression during sexual differentiation in androgen receptor knockout mice induced by environmental endocrine disruptors.
Dehong Liu,Liping Shen,Yonglin Tao,Ying Kuang,Lei Cai,Dan Wang,Meiduo He,Xuebo Tong,Shuguang Zhou,Jie Sun,Chenchen Shi,Chunxiao Wang,Yi Wu +12 more
TL;DR: Following the publication of the above article, an interested reader drew to the authors' attention a number of issues and concerns related to the descriptions of the genes and mouse models in the above paper, and the authors have acknowledged that their paper did indeed contain errors.
References
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Book
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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
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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.