title: Isolation, mapping, and functional expression of the mouse X chromosome glycerol kinase gene.
abstract: Glycerol kinase (Gyk) participates in the metabolism of endogenously derived and dietary glycerol. Deficiency of the human enzyme activity is an X-linked recessive disorder with a clinical picture varying from childhood metabolic crisis to asymptomatic adults incidentally identified by hyperlipidemia screening (pseudohypertriglyceridemia). Gyk is a member of a small group of kinases termed ambiquitous enzymes that are found in the cytosol or as membrane-bound enzymes associated with the voltage-dependent anion channel of the mitochondrial outer membrane. It was recently reported that in humans there are X-linked and autosomal copies of Gyk sequences, both apparently functional genes and processed pseudogenes. To understand the role of Gyk in normal metabolism and the variable clinical features seen with Gyk deficiency, we have characterized the mouse Gyk gene. We present the sequence of a full-length mouse Gyk cDNA that is alternatively spliced in brain. The Gyk gene was mapped to the mouse X chromosome by both fluorescence in situ hybridization and an interspecies backcross panel, demonstrating conservation of synteny with dmd. To confirm the functional identity of the cDNA, transient transfection of the cDNA into COS7 cells was shown to cause a marked elevation in glycerol kinase activity.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: A H
authors.initials: AH
authors.lastname: Huq
authors.forename: R S
authors.initials: RS
authors.lastname: Lovell
authors.forename: M J
authors.initials: MJ
authors.lastname: Sampson
authors.forename: W K
authors.initials: WK
authors.lastname: Decker
authors.forename: M B
authors.initials: MB
authors.lastname: Dinulos
authors.forename: C M
authors.initials: CM
authors.lastname: Disteche
authors.forename: W J
authors.initials: WJ
authors.lastname: Craigen
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D019556:COS Cells; D002874:Chromosome Mapping; D018076:DNA, Complementary; D005991:Glycerol Kinase / Q000235:genetics*; D051379:Mice; D008810:Mice, Inbred C57BL; D008969:Molecular Sequence Data; D017386:Sequence Homology, Amino Acid; D014960:X Chromosome
chemical_list: D018076:DNA, Complementary; D005991:Glycerol Kinase