The DOI matches its Crossref record; 31 of the 32 references it cites were found in a registry or an index.
Genetic and pharmacological evidence for more than one human steroid 5 alpha-reductase.
Open accessAbstract
The enzyme steroid 5 alpha-reductase catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone, and impairment of this reaction causes a form of male pseudohermaphroditism in which genetic males differentiate predominantly as phenotypic females. We previously isolated cDNA clones that encode a human steroid 5 alpha-reductase enzyme. Here, we report molecular and genetic studies demonstrating that the gene encoding this cDNA is normal in subjects with the genetic disease steroid 5 alpha-reductase deficiency. We further show that in contrast to the major steroid 5 alpha-reductase in the prostate and cultured skin fibroblasts, the cDNA-encoded enzyme exhibits a neutral to basic pH optima and is much less sensitive to inhibition by the 4-aza steroid, finasteride (MK-906). The results provide genetic, biochemical, and pharmacological support for the existence of at least two steroid 5 alpha-reductase isozymes in man.
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Flagged first, then by citations
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Self-citation
Metadata
- Authors
- Jenkins, E. P., Andersson, S., Imperato-McGinley, J., Wilson, J. D., & Russell, D. W.
- Affiliations
- The University of Texas Southwestern Medical Center (US)
- Cornell University (US)
- ORCID
- Russell, D W
- Venue
- Journal of Clinical Investigation
- Published
- 1992-01-01
- Volume
- 89
- Issue
- 1
- Pages
- 293-300
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC442847
- OpenAlex
- W1974392957
- Cited by
- 395
- References
- 32
- Citations by year
- 2026: 2 · 2024: 6 · 2023: 15 · 2022: 5 · 2021: 4 · 2020: 4 · 2019: 3 · 2018: 3 · 2017: 2 · 2016: 6 · 2015: 8 · 2014: 5 · 2013: 11 · 2012: 8
- FWCI
- 11.26
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Welch Foundation (I-0971)
- National Institutes of Health (5r01gm043753-07, 5r01dk003892-40)
- National Institute of General Medical Sciences (GM-43753)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK-03892, DK-07307, T32DK007307)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal and reproductive studies
- Keywords
- 5α-reductase, isozymes, dihydrotestosterone, 5-alpha-reductase deficiency, 46,XY disorders of sex development, finasteride, enzyme inhibition, pH optimum, cDNA, androgen production
- MeSH terms
- Base Sequence, Cloning, Molecular, DNA, Single-Stranded, Humans, Isoenzymes, Kinetics, Male, Molecular Sequence Data, Pedigree, Prostate, Polymorphism, Restriction Fragment Length, Disorders of Sex Development, Skin, Dihydrotestosterone, Testosterone, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Polymerase Chain Reaction
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