title: 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes.
abstract: 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL) is a homodimeric mitochondrial matrix enzyme that catalyzes the last step of ketogenesis. Using a human HL cDNA as a probe, we isolated a 1.4-kb mouse HL cDNA (HLM) from a mouse liver library and extended the sequence in the 5' direction, using RACE PCR to include the complete coding sequence. The nucleotide sequence of the mouse HL coding region is 85.7% identical to human HL, and 52.6% to Ps. mevalonii HL. Peptide identities of 87.4% and 54.3% respectively were observed. Southern analysis of 29 strains of laboratory mice and of Mus spretus revealed a total of about 25 kb of hybridizing fragments and three polymorphic fragments in both EcoRI and Hin-dIII digestions. The mouse HL locus (Hmgcl) was localized on Chromosome (Chr) 4: Pmv-19-12.6 +/- 3.6 cM-Hmgcl-7.3 +/- 2.3 cM-Xmv-8-1.5 +/- 1.0 cM-Gpd-1. The human HL locus (HMGCL) was mapped to distal Chr 1p by analysis of a human-hamster hybrid cell panel and by in situ hybridization.
authors.affiliation: Service de Génétique Médicale, Hôpital Sainte-Justine, Montreal, Quebec, Canada.
authors.forename: S
authors.initials: S
authors.lastname: Wang
authors.forename: J H
authors.initials: JH
authors.lastname: Nadeau
authors.forename: A
authors.initials: A
authors.lastname: Duncan
authors.forename: M F
authors.initials: MF
authors.lastname: Robert
authors.forename: G
authors.initials: G
authors.lastname: Fontaine
authors.forename: K
authors.initials: K
authors.lastname: Schappert
authors.forename: K R
authors.initials: KR
authors.lastname: Johnson
authors.forename: E
authors.initials: E
authors.lastname: Zietkiewicz
authors.forename: P
authors.initials: P
authors.lastname: Hruz
authors.forename: H
authors.initials: H
authors.lastname: Miziorko
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D006801:Humans; D006904:Hydroxymethylglutaryl-CoA Synthase / Q000235:genetics*; D008099:Liver / Q000201:enzymology; D051379:Mice; D008969:Molecular Sequence Data; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D013045:Species Specificity
chemical_list: D015342:DNA Probes; D004247:DNA; D006904:Hydroxymethylglutaryl-CoA Synthase