Structural Analysis of the Gene Encoding Human 3β-Hydroxysteroid Dehydrogenase/δ5→4-lsomerase
Open accessAbstract
The structural gene encoding human 3 beta-hydroxysteroid dehydrogenase/delta 5----4-isomerase (3 beta HSD) was isolated from a human EMBL3 genomic library. The gene encompasses approximately 8 kilobases of DNA and is comprised of two large introns and three exons encoding amino acid residues 1-48, 49-103, and 104-373, respectively. The exonic sequence is identical to that of the cDNA that we previously isolated and expressed in COS 1 cells. DNA sequence analysis reveals a putative TATA (TATATAA) motif 26 basepairs up-stream of the beginning of exon I, as determined by S1 nuclease protection analysis. However, primer extension analysis using poly(A)+ RNA isolated from both placenta and corpora lutea indicates that the RNA initiates up-stream of the putative TATA motif, and that an additional 53-basepair exon, which is untranslated, is present 5' to the first coding exon. Southern hybridization analysis of genomic DNA using a single exon probe suggests that there may be more than one copy of the gene in the human genome. In addition, we confirm from Southern analysis of genomic DNA isolated from human x hamster somatic cell hybrids that the gene is located on human chromosome 1. These findings will provide a foundation for the characterization of apparent 3 beta HSD clinical deficiencies when these are due to a mutation in the structural gene.
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- Authors
- Lorence, M. C., Corbin, C. J., Kamimura, N., Mahendroo, M. S., & Mason, J. I.
- Affiliations
- The University of Texas Southwestern Medical Center (US)
- The University of Texas at Dallas (US)
- Venue
- Molecular Endocrinology
- Publisher
- The Endocrine Society
- Published
- 1990-12
- Volume
- 4
- Issue
- 12
- Pages
- 1850-1855
- ISSN
- 0888-8809 (ISSN-L)
- 1944-9917
- OpenAlex
- W1991542972
- Semantic Scholar
- 7f3bb8894183fc8b25ba5c984d6cf3a406ec1688
- Cited by
- 80
- References
- 12
- Citations by year
- 2023: 2 · 2018: 2 · 2016: 3 · 2015: 5 · 2013: 3 · 2012: 3
- FWCI
- 1.71
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Molecular Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- U.S. Department of Health and Human Services
- National Institutes of Health (5r01ag008175-05, HD-11149)
- Cecil H. and Ida Green Center for Reproductive Biology Sciences
- National Institute on Aging (AG 08175)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD-11149)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Steroid Chemistry and Biochemistry
- Keywords
- 3β-hydroxysteroid dehydrogenase, gene structure, chromosome 1, TATA box, transcription initiation, introns and exons, gene copy number, placenta, corpus luteum, steroidogenesis, congenital adrenal hyperplasia
- MeSH terms
- Amino Acid Sequence, Base Sequence, Exons, Genes, Humans, Introns, Molecular Sequence Data, Multienzyme Complexes, Nucleic Acid Hybridization, Placenta, Progesterone Reductase, Steroid Isomerases, Restriction Mapping, Deoxyribonuclease EcoRI, DNA Probes, Polymerase Chain Reaction, TATA Box
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Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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