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
More filters
Patent
Method for inhibiting bone resorption
TL;DR: In this article, an anti-sclerostin inhibitor is administered to a human to reduce a bone resorption marker level for at least two weeks, and a method for increasing bone mineral density and ameliorating the effects of an osteoclast-related disorder is presented.
Journal ArticleDOI
Novel insertion frameshift mutation of the LH receptor gene: Problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis
Annette Richter-Unruh,Eckhard Korsch,Olaf Hiort,Paul-Martin Holterhus,Axel P. N. Themmen,Stefan A. Wudy +5 more
TL;DR: A novel homozygous single nucleotide insertion in exon 11 (codon A589fs) produces a frame shift in the open reading frame predicting for premature termination of translation 17 amino acids downstream, the first frame shift mutation in the LH receptor gene ever reported to date.
Journal ArticleDOI
Structure and activity of the murine type 5 17β-hydroxysteroid dehydrogenase gene
TL;DR: The cloning and characterization of the mouse type 5 17beta-HSD belonging to the aldo-keto reductase superfamily is reported, in contrast with types 1, 2, 3, 4, 6, and 7 17 beta-HSDs which belong to the short-chain alcohol dehydrogenase family.
Journal ArticleDOI
The tissue distribution of porcine 17β-estradiol dehydrogenase and its induction by progesterone ☆
TL;DR: Porcine 17 beta-estradiol dehydrogenase (EDH) was recently purified and cloned andConstitutive levels of EDH activity were seen in the adrenals, the lung and the liver.
Journal ArticleDOI
Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency
Ahmed Khattab,Tony Yuen,Mabel Yau,Sorahia Domenice,Elaine Maria Frade Costa,Kazmi Diya,Dwaipayan Muhuri,Christian Pina,Mirian Yumie Nishi,Amy Yang,Berenice B. Mendonça,Maria I. New +11 more
TL;DR: Molecular genetic analysis provides accurate diagnosis of Steroid 17β-hydroxysteroid dehydrogenase III deficiency in patients with 46,XY disorders of sexual differentiation and shows decreased D4/T ratio after hCG stimulation.
References
More filters
Book
Molecular Cloning: A Laboratory Manual
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.
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
PROSITE : a dictionary of sites and patterns in proteins
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.