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
Overview of genetic defects in endocrinopathies in the island of Cyprus; evidence of a founder effect.
Christos Shammas,Vassos Neocleous,Meropi Toumba,Constantina Costi,Alexia A P Phedonos,Elisavet Efstathiou,Andreas Kyriakou,Leonidas A. Phylactou,Nicos Skordis +8 more
TL;DR: The past migration trends in Cyprus that shaped the present-day gene pool of the Greek-Cypriot population are portrayed clearly through specific endocrine genetic disorders.
Patent
High concentration antibody formulations
TL;DR: In this article, high-concentration antibody formulations comprising an anti-sclerostin immunoglobulin and an acetate salt and/or a buffer are described.
Journal ArticleDOI
Gene structure, chromosomal localization and analysis of 3-ketosteroid reductase activity of the human 3(α→β)-hydroxysteroid epimerase
Xiao-Fang Huang,Van Luu-The +1 more
TL;DR: It is proposed that intact cells constitute a system which closely reflects in vivo intracellular conditions, and hHSE might contribute to the cellular 3-ketosteroid reductase activity in the peripheral tissues.
Journal ArticleDOI
Isolation and characterization of a stereospecific 3beta-hydroxysteriod sulfotransferase (pregnenolone sulfotransferase) cDNA.
TL;DR: The cloning and expression of the substrate and chiral-specific pregnenolone sulfotransferase (PREG-ST) showed that the expressed enzyme selectively catalyzes the 3beta-hydroxysteroid substrate, whereas dehydroepiandrosterone and epiandrostersone were transformed at a much lower rate, and androsterone, a 3alpha-hydrosteroid, was not significantly metabolized (30-fold lower).
Journal ArticleDOI
Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias
Cilla Söderhäll,Izabella Baranowska Körberg,Hanh T. T. Thai,Jia Cao,Yougen Chen,Xufeng Zhang,Zu Shulu,Loes F.M. van der Zanden,Iris A.L.M. van Rooij,Louise Frisén,Nel Roeleveld,Ellen Markljung,Ingrid Kockum,Agneta Nordenskjöld +13 more
TL;DR: Mutation analysis of the AKR1C3 gene showed a new mutation, c.643G>A (p.(Ala215Thr)), in a boy with penile hypospadias, which is predicted to have an impact on protein function and structure and was not found in controls.
References
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Book
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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.
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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.
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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.