Cloning of a Human Galactokinase Gene (GK2) on Chromosome 15 by Complementation in Yeast

• Published in: Proceedings of the National Academy of Sciences - PNAS 1992-11, Vol.89 (22), p.10887-10891
• Main Authors: Lee, Robert T., Peterson, Craig L., Calman, Andrew F., Herskowitz, Ira, O'Donnell, James J.
• Format: Article
• Language: English
• Subjects: Amino Acid Sequence; Animals; Bacteria - enzymology; Bacteria - genetics; Base Sequence; Biological and medical sciences; cDNA; Cell lines; chromosome 15; Chromosome Banding; Chromosome Mapping; Chromosomes; Chromosomes, Human, Pair 15; Cloning, Molecular; Complementary DNA; complementation; DNA; Fundamental and applied biological sciences. Psychology; galactokinase; Galactokinase - genetics; Galactosemias; Gene Library; Generally accepted auditing standards; Genes; Genes. Genome; Genetic Complementation Test; Genetics; Humans; Hybrid Cells; man; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; nucleotide sequence; Oligodeoxyribonucleotides; Open Reading Frames; Phylogeny; Polymerase chain reaction; Polymerase Chain Reaction - methods; predictions; Saccharomyces - enzymology; Saccharomyces - genetics; Saccharomyces cerevisiae - genetics; Sequence Homology, Amino Acid; Yeast; Yeasts
• ISSN: 0027-8424; 1091-6490
• DOI: 10.1073/pnas.89.22.10887

A human cDNA encoding a galactokinase (EC 2.7.1.6) was isolated by complementation of a galactokinase-deficient (gal1-) strain of Saccharomyces cerevisiae. This cDNA encodes a predicted protein of 458 amino acids with 29% identity to galactokinase of Saccharomyces carlsbergensis. Previous studies have mapped a human galactokinase gene (GK1) to chromosome 17q23-25, closely linked to thymidine kinase. The galactokinase gene that we have isolated (GK2) is located on chromosome 15. The relationship between the disease locus for galactokinase deficiency galactosemia, which is responsible for cataracts in newborns and possibly presenile cataracts in adults, and the two galactokinase loci is unknown.