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Publication : Localization of the squalene synthase gene (FDFT1) to human chromosome 8p22-p23.1.

First Author  Schechter I Year  1994
Journal  Genomics Volume  20
Issue  1 Pages  116-8
PubMed ID  8020937 Mgi Jnum  J:17237
Mgi Id  MGI:65287 Doi  10.1006/geno.1994.1135
Citation  Schechter I, et al. (1994) Localization of the squalene synthase gene (FDFT1) to human chromosome 8p22-p23.1. Genomics 20(1):116-8
abstractText  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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