Isolation, Mapping, and Functional Expression of the Mouse X Chromosome Glycerol Kinase Gene

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 hyperlipidemi...

Full description

Saved in:
Bibliographic Details
Published in:Genomics (San Diego, Calif.) Calif.), 1996-09, Vol.36 (3), p.530-534
Main Authors: Huq, A.H.M.Mahbubul, Lovell, Rhonda S., Sampson, Margaret J., Decker, William K., Dinulos, Mary Beth, Disteche, Christine M., Craigen, William J.
Format: Article
Language:English
Subjects:
Alternative Splicing
Amino Acid Sequence
Animals
Biological and medical sciences
Chromosome Mapping
COS Cells
DNA, Complementary
Fundamental and applied biological sciences. Psychology
Genes. Genome
Glycerol Kinase - genetics
Mice
Mice, Inbred C57BL
Molecular and cellular biology
Molecular genetics
Molecular Sequence Data
Sequence Homology, Amino Acid
X Chromosome
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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 fluorescencein situhybridization and an interspecies backcross panel, demonstrating conservation of synteny withdmd.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.
ISSN:0888-7543
1089-8646
DOI:10.1006/geno.1996.0500