Variation in the expression of human 3 beta-hydroxysteroid dehydrogenase
| Autor: | Sandra M. Burridge, Martin W. McBride, R G Sutcliffe, A J Russell, G Corcao, C S Hawes, A M McNicol, J I Mason, S McCartin |
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| Rok vydání: | 1995 |
| Předmět: |
endocrine system
3-Hydroxysteroid Dehydrogenases Genetic Linkage Molecular Sequence Data Biology medicine.disease_cause Gene Expression Regulation Enzymologic Endocrinology Genetic linkage Polymorphism (computer science) Genetic variation medicine Humans Amino Acid Sequence Gene Genetics Regulation of gene expression Mutation Polymorphism Genetic Base Sequence Trophoblast Genetic Variation General Medicine Penetrance Antigenic Variation medicine.anatomical_structure Multigene Family Epitope Mapping |
| Zdroj: | Endocrine research. 21(1-2) |
| ISSN: | 0743-5800 |
| Popis: | Polymorphic genetic variation shows that the genes for human 3 beta-hydroxysteroid dehydrogenases (3 beta-HSD) types I and II are closely linked. The type II mutations A82T, S100N and L173R are associated with male pseudohermaphroditism and A82T is associated, with variable penetrance, with female premature puberty. When expressed in vitro A82T showed less than 5% of normal activity and L173R showed a 30-50% reduction in activity. PCR experiments and direct genomic cloning show that there is a larger family of 3 beta-HSD sequences which require to be tested for expression. The phenomenon of epitopic heterogeneity of 3 beta-HSD is discussed and is now shown to apply to testicular Leydig cells as well as extrauterine trophoblast. RT-PCR analyses indicate that the phenomenon is most likely to be due to post-translational modification affecting the carboxytermini 3 beta-HSD types I and II. This phenomenon may reflect a further level at which enzyme activity is regulated. |
| Databáze: | OpenAIRE |
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