PMID- 8020937 OWN - NLM STAT- MEDLINE DCOM- 19940729 LR - 20190904 IS - 0888-7543 (Print) IS - 0888-7543 (Linking) VI - 20 IP - 1 DP - 1994 Mar 1 TI - Localization of the squalene synthase gene (FDFT1) to human chromosome 8p22-p23.1. PG - 116-8 AB - 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. FAU - Shechter, I AU - Shechter I AD - Eleanor Roosevelt Institute, Denver, Colorado 80206. FAU - Conrad, D G AU - Conrad DG FAU - Hart, I AU - Hart I FAU - Berger, R C AU - Berger RC FAU - McKenzie, T L AU - McKenzie TL FAU - Bleskan, J AU - Bleskan J FAU - Patterson, D AU - Patterson D LA - eng GR - AG00029/AG/NIA NIH HHS/United States PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, P.H.S. PL - United States TA - Genomics JT - Genomics JID - 8800135 RN - 0 (DNA Primers) RN - EC 2.5.1.21 (Farnesyl-Diphosphate Farnesyltransferase) SB - IM GS - FDFT1 MH - Base Sequence MH - Chromosome Mapping MH - Chromosomes, Artificial, Yeast MH - *Chromosomes, Human, Pair 8/ultrastructure MH - DNA Primers/genetics MH - Farnesyl-Diphosphate Farnesyltransferase/*genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Molecular Sequence Data MH - Polymerase Chain Reaction EDAT- 1994/03/01 00:00 MHDA- 1994/03/01 00:01 CRDT- 1994/03/01 00:00 PHST- 1994/03/01 00:00 [pubmed] PHST- 1994/03/01 00:01 [medline] PHST- 1994/03/01 00:00 [entrez] AID - S0888754384711359 [pii] AID - 10.1006/geno.1994.1135 [doi] PST - ppublish SO - Genomics. 1994 Mar 1;20(1):116-8. doi: 10.1006/geno.1994.1135.