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
Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients.
Roger T. Engeli,Maria Tsachaki,Heba A. Hassan,Christoph P. Sager,Mona L. Essawi,Yehia Z. Gad,Alaa K. Kamel,Inas Mazen,Alex Odermatt +8 more
TL;DR: The 17β-HSD3 G289S substitution, previously reported in other patients with 46, XY DSD, is a polymorphism that does not cause the disorder; thus, further sequence analysis was required and disclosed a mutation in SRD5A2, explaining the cause of 46,XY DSD in these patients.
Book ChapterDOI
Disorders of the Gonads, Genital Tract, and Genitalia
TL;DR: Genetic control of male sex differentiation involves sex-determining region Y (SRY) (Y chromosome) derepressing an autosomal region to allow SOX9 (17q24.1) expression.
Book ChapterDOI
Leydig Cell and Spermatogenesis.
TL;DR: Testosterone metabolic enzyme steroid 5α-reductase 1 and 3α-hydroxysteroid dehydrogenase are expressed in some precursor Leydig cells as mentioned in this paper, which are the cell type for the synthesis of testosterone, which is critical for spermatogenesis.
Journal ArticleDOI
Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1).
A. Coulomb L'Herminé,Azzedine Aboura,B. Simon-Bouy,F. Robin,François Audibert,N. Strouk,F. Capron,René Frydman,Gérard Tachdjian +8 more
TL;DR: Results suggest that a gene(s) for genital development reside in chromosomal region 9q22.2q31.1, the first prenatal diagnosis of a de novo interstitial deletion 9q.
Journal ArticleDOI
A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at puberty
TL;DR: It is emphasized that 17β-HSD3 deficiency should be considered in virilized female patients at puberty if the T/A ratio is less than 0.8, and the molecular analysis should be performed for the precise diagnosis and genetic counseling.
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
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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.