Molecular Genetics of Human 3beta-Hydroxysteroid Dehydrogenase Deficiency

Russell, Alan John (1993) Molecular Genetics of Human 3beta-Hydroxysteroid Dehydrogenase Deficiency. PhD thesis, University of Glasgow.

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Abstract

3beta-hydroxysteroid dehydrogenase (3beta-HSD) catalyses a series of obligatory biosynthetic steps in the synthesis of mineralocorticoids, glucocorticoids and sex steroids. Specifically, it converts the 3beta-hydroxysteroids pregnenolone, 17-hydroxypregnenolone, dehydroepiandrosterone, and androstene 3beta,1713-diol into the respective 3beta4 3-ketosteroids: progesterone, 17alpha-hydroxyprogesterone, androstenedione and testosterone. In rodents at least three genes for 3beta-HSD have been found to be expressed. When analysed on southern blots, human DNA shows evidence of six or more sequences with homology to 3beta-HSD probes. So far, two highly homologous but distinct human genes have been cloned, encoding 3beta-HSD type I expressed principally in the placenta, and 3beta-HSD type II expressed in adrenal, ovary and testis. Though the type I and II enzymes differ in their kinetics in detail, they are both capable of converting the same 3beta5 substrates.

Item Type: Thesis (PhD)
Qualification Level: Doctoral
Additional Information: Adviser: Roger G Sutcliffe
Keywords: Genetics
Date of Award: 1993
Depositing User: Enlighten Team
Unique ID: glathesis:1993-74521
Copyright: Copyright of this thesis is held by the author.
Date Deposited: 27 Sep 2019 17:58
Last Modified: 27 Sep 2019 17:58
URI: http://theses.gla.ac.uk/id/eprint/74521

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