Localization of the Squalene Synthase Gene (FDFT1) to Human Chromosome 8p22-p23.1
Abstract
Recently, we reported the isolation of a cDNA encoding the human enzyme squalene synthase, the first step of sterol biosynthesis uniquely committed to synthesis of cholesterol (6). As such, it is likely that this enzyme occupies a critical regulatory position in the synthesis of cholesterol. As part of continuing studies of the role of this gene in cellular metabolism, we undertook the mapping of this gene on the human chromosomes. To localize the gene, we have first isolated a yeast artificial chromosome (YAC) containing the squalene synthase gene. We then used fluorescence in situ hybridization (FISH) with yeast DNA containing the YAC to localize the gene to chromosome 8. Assignment to human chromosome 8 was confirmed by polymerase chain reaction analysis of a somatic cell hybrid containing human chromosome 8. Use of a somatic cell hybrid regional mapping panel dividing chromosome 8 into several fragments localized the gene to 8p21-pter. Fractional length analysis of the FISH mapping placed the signal generated with this YAC at 8p22-p23.1.
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FDFT1 acts at a branch point in the mevalonate pathway, and is the first specific enzyme in cholesterol synthesis, catalyzing the reaction that produces squalene synthase.
“FDFT1 acts at a branch point in the mevalonate pathway, and is the first specific enzyme in cholesterol synthesis, catalyzing the reaction that produces squalene synthase34,45.”
From RETRACTED ARTICLE: Fasting inhibits aerobic glycolysis and proliferation in colorectal cancer via the Fdft1-mediated AKT/mTOR/HIF1α pathway suppression (2020) · cites this paper as [45]
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- Authors
- Shechter, I., Conrad, D. G., Hart, I., Berger, R. C., McKenzie, T. L., Bleskan, J., & Patterson, D.
- Affiliations
- Roosevelt Institute (US)
- Venue
- Genomics
- Publisher
- Elsevier BV
- Published
- 1994-03
- Volume
- 20
- Issue
- 1
- Pages
- 116-118
- ISSN
- 0888-7543 (ISSN-L)
- OpenAlex
- W2081177566
- Cited by
- 34
- References
- 0
- Citations by year
- 2025: 1 · 2023: 2 · 2022: 2 · 2020: 2 · 2019: 1 · 2018: 2 · 2014: 3 · 2013: 1 · 2012: 1
- FWCI
- 2.17
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Genomics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute on Aging (AG 00029)
- Topics
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Steroid Chemistry and Biochemistry
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- squalene synthase, gene mapping, human chromosome 8, sterol biosynthesis, cholesterol biosynthesis, yeast artificial chromosomes, fluorescence in situ hybridization, somatic cell hybrid mapping
- MeSH terms
- Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 8, Humans, Molecular Sequence Data, Farnesyl-Diphosphate Farnesyltransferase, Polymerase Chain Reaction, In Situ Hybridization, Fluorescence, DNA Primers, Chromosomes, Artificial, Yeast
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