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
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The importance of oestrogens in males.
TL;DR: The observations in oestrogen-resistant or -deficient males and the wealth of evidence for the role of oestrogens in the (patho)physiology of bone and lipid metabolism, cardiovascular disease and the hypothalamo–pituitary– gonadal axis in women are discussed.
Journal ArticleDOI
Report on the third international workshop on chromosome 9
Susan Povey,John A.L. Armour,P. Farndon,Jonathan L. Haines,Margaret A. Knowles,F. Olopade,Alison Pilz,J. A. White,David J. Kwiatkowski +8 more
TL;DR: The Fifth International Workshop on chromosome 9 as discussed by the authors consisted of 36 scientists from seven countries and included a fairly even distribution of interests along chromosome 9 as well as a strong input from more global activities and from comparative mapping.
Journal ArticleDOI
In Vivo and In Vitro Evidence for the Biosynthesis of Testosterone in the Telencephalon of the Female Frog
Ayikoe Guy Mensah-Nyagan,Jean-Luc Do-Rego,Marc G. J. Feuilloley,Albert Marcual,Catherine Lange,Georges Pelletier,Hubert Vaudry +6 more
TL;DR: The existence of an active form of 17β‐HSD in the frog telencephalon, which is likely involved in testosterone biosynthesis within the brain, is demonstrated.
Journal ArticleDOI
Steroid Hormone Biosynthesis and Actions in the Materno Fetoplacental Unit
TL;DR: Human pregnancy is associated with profound changes in the mother's steroid hormone milieu because of steroids produced by the corpus luteum of pregnancy and by the fetoplacental unit.
Journal ArticleDOI
11-Oxygenated androgens in health and disease.
TL;DR: Concentrations of 11-oxyandrogens are elevated in several disorders of androgen excess, including premature adrenarche, congenital adrenal hyperplasia and polycystic ovary syndrome, and they can contribute to the progression of castration-resistant prostate cancer.
References
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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.