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 |
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| Authors: | Shupei Wang Joseph H Nadeau Alessandra Duncan Marie-France Robert Gisèle Fontaine Keith Schappert Kenneth R Johnson Ewa Zietkiewicz Paul Hruz Henry Miziorko Grant A Mitchell |
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| Institution: | (1) Service de Génétique Médicale, Hôpital Sainte-Justine, 3175 chemin Côte Ste-Catherine, H3T 1C5 Montreal, Quebec, Canada;(2) The Jackson Laboratory, 04609 Bar Harbor, Maine, USA;(3) Department of Pathology, Kingston General Hospital and Queens University, K7L 2V7 Kingston, Ontario, Canada;(4) Canadian Network of Centers of Excellence in Human Genetics, M5G 1X8 Toronto, Ontario, Canada;(5) Department of Medical Genetics, Hospital for Sick Children, M5G 1X8 Toronto, Ontario, Canada;(6) Department of Biochemistry, Medical College of Wisconsin, 53226 Milwaukee, Wisconsin, USA |
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| 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 HindIII 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-Gpd1. 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. |
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