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
5α-reductase and 17β-hydroxysteroid dehydrogenase expression in epithelial cells from hyperplastic and malignant human prostate
TL;DR: The aim of this study was to compare the formation of metabolites in freshly isolated epithelial cells and in cells of long‐term cultures and to identify the 5α‐reductase (5α‐R) and 17β‐hydroxysteroid dehydrogenase (17β‐HSD) isoforms responsible for metabolite formation.
Book ChapterDOI
Translating genomics to the clinical diagnosis of disorders/differences of sex development.
Abhinav Parivesh,Hayk Barseghyan,Emmanuèle C Délot,Emmanuèle C Délot,Eric Vilain,Eric Vilain +5 more
TL;DR: A number of established genomic tools used in clinic for DSD diagnosis, as well as emerging genomic technologies such as whole-genome (short-read) sequencing, long-read sequencing, and optical mapping used for novel DSD gene discovery are reviewed.
Journal ArticleDOI
Disorders of sexual differentiation in the adolescent.
TL;DR: A brief discussion of the needs of the adolescent with DSDs is presented, and molecular explanations are given for some.
Journal ArticleDOI
Virtual screening applications in short-chain dehydrogenase/reductase research
TL;DR: An overview of the efforts undertaken in the field of virtual screening supported identification of bioactive molecules in SDR research is provided and an outlook and addresses the opportunities and limitations of computational modeling and in vitro validation methods are presented.
Journal ArticleDOI
17β-Hydroxysteroid dehydrogenase type 2 expression and enzyme activity in the human gastrointestinal tract
Toshikazu Sano,Gen Hirasawa,Junji Takeyama,Andrew D. Darnel,Takashi Suzuki,Takuya Moriya,Katuaki Kato,Hitoshi Sekine,S. Ohara,Tooru Shimosegawa,Junji Nakamura,Makoto Yoshihama,Nobuhiro Harada,Hironobu Sasano +13 more
TL;DR: Examination of 17βHSD2 expression and activity in human adult non-pathological gastrointestinal tract suggests that the human gastrointestinal tract is an important sex steroid metabolizing organ in humans.
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.
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.