Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4′-epimerase (GALE)

Molecular Genetics and Metabolism

Volumn 93, Issue 2, 2008, Pages 160-171

  Mumma, Jane Odhiambo ^a   Chhay, Juliet S ^a   Ross, Kerry L ^a   Eaton, Jana S ^b   Newell Litwa, Karen A ^c   Fridovich Keil, Judith L ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Graduate Program In Immunology and Molecular Pathogenesis   (United States)

^c Developmental Biology   (United States)

Author keywords

Gal 1P; Galactose; Galactosemia; GALE; GALK; GALT; Yeast

Indexed keywords

DOXYCYCLINE; GALACTOKINASE; GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; GALACTOSE PHOSPHATE; URIDINE DIPHOSPHATE GLUCOSE 4 EPIMERASE;

ARTICLE; CARBON SOURCE; ENZYME ASSAY; FUNGUS GROWTH; GALACTOSEMIA; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; LEILOR PATHWAY; METABOLISM; NONHUMAN; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE;

DOXYCYCLINE; GALACTOKINASE; GALACTOSE; GALACTOSEPHOSPHATES; GENE DELETION; GENE EXPRESSION REGULATION, FUNGAL; GENES, FUNGAL; SACCHAROMYCES CEREVISIAE; UDPGLUCOSE 4-EPIMERASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 38049014319     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.09.012     Document Type: Article

References (35)

1. Holden H.M., Rayment I., and Thoden J.B. Structure and function of enzymes of the Leloir pathway for galactose metabolism. J. Biol. Chem. 278 (2003) 43885-43888
2. Piller F., Hanlon M.H., and Hill R.L. Co-purification and characterization of UDP-glucose 4-epimerase and UDP-N-acetylglucosamine 4-epimerase from porcine submaxillary glands. J. Biol. Chem. 258 (1983) 10774-10778
3. Schulz J., Watson A., Sanders R., Ross K., Thoden J., Holden H., and Fridovich-Keil J. Determinants of function and substrate specificity in human UDP-galactose 4′-epimerase. J. Biol. Chem. 279 (2004) 32796-32803
4. Tyfield L., and Walter J. In: Scriver C., Beaudet A., Sly W., Valle D., Childs B., Kinzler K., and Vogelstein B. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2002), McGraw-Hill, New York
5. Zaffanello M., Zamboni G., Schadewaldt P., Borgiani P., and Novelli G. Neonatal screening, clinical features and genetic testing for galactosemia. Genet. Med. 7 (2005) 211-212
6. Waggoner D.D., Buist N.R.M., and Donnell G.N. Long-term prognosis in galactosemia: results of a survey of 350 cases. J. Inher. Metab. Dis. 13 (1990) 802-818
7. Arn P. Galactosemia. Curr. Treat Options Neurol. 5 (2003) 343-345
8. Antshel K., Epstein I., and Waisbren S. Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study. Neuropsychology 18 (2004) 658-664
9. Ridel K., Leslie N., and Gilbert D. An updated review of the long-term neurological effects of galactosemia. Pediatr. Neurol. 33 (2005) 153-161
10. Fridovich-Keil J. Galactosemia: the good, the bad, and the unknown. J. Cell. Physiol. 209 (2006) 701-705
11. Openo K., Schulz J., Vargas C., Orton C., Epstein M., Schnur R., Scaglia F., Berry G., Gottesman G., Ficicioglu C., Slonim A., Shroer R., Yu C., Rangel V., Kenan J., Lamance K., and Fridovich-Keil J. Epimerase-deficiency galactosemia is not a binary condition. Am. J. Hum. Genet. 78 (2006) 89-102
12. J.B. Holton, J.H. Walter, L.A. Tyfield, in: C.R. Scriver, A.L. Beaudet, S.W. Sly, D. Valle (Eds.), B. Childs, K.W. Kinzler, B. Vogelstein (Assoc. Eds.), Metabolic and Molecular Bases of Inherited Disease, eighth ed. McGraw Hill, 2001, pp. 1553-1587.
13. Leslie N.D. Insights into the pathogenesis of galactosemia. Annu. Rev. Nutr. 23 (2003) 59-80
14. Walter J.H., Roberts R.E.P., Besley G.T.N., Wraith J.E., Cleary M.A., Holton J.B., and MacFaul R. Generalised uridine diphosphate galactose-4-epimerase deficiency. Arch. Dis. Child 80 (1999) 374-376
15. Wohlers T., and Fridovich-Keil J.L. Studies of the V94M-substituted human UDP-galactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosemia. J. Inher. Metab. Dis. 23 (2000) 713-729
16. Riehman K., Crews C., and Fridovich-Keil J.L. Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase. J. Biol. Chem. 276 (2001) 10634-10640
17. Ross K.L., Davis C.N., and Fridovich-Keil J.L. Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast. Mol. Gen. Metab. 83 (2004) 103-116
18. Wasilenko J., Lucas M., Thoden J., Holden H., and Fridovich-Keil J. Functional characterization of the K257R and G319E hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia. Mol. Gen. Metab. 84 (2005) 32-38
19. Wasilenko J., and Fridovich-Keil J. Relationship between UDP galactose 4′-epimerase activity and galactose sensitivity in yeast. J. Biol. Chem. 281 (2006) 8443-8449
20. Douglas H.C., and Hawthorne D.C. Enzymatic expression and genetic linkage of genes controlling galactose utilization in Saccharomyces. Genetics 49 (1964) 837-844
21. Mehta D.V., Kabir A., and Bhat P.J. Expression of human inositol monophosphatase suppresses galactose toxicity in Saccharomyces cerevisiae: possible implications for galactosemia. Bioch. et Biophys. Acta 1454 (1999) 217-226
22. Kabir M.A., Khanday F.A., Mehta D.V., and Bhat P.J. Multiple copies of MRG19 suppress transcription of the GAL1 promoter in a GAL80-dependent manner in Saccharomyces cerevisiae. Mol. Gen. Genet. 262 (2000) 1113-1122
23. Lai K., and Elsas L. Overexpression of human UDP-glucose pyrophosphorylase rescues galactose-1-phosphate uridyltransferase-deficient yeast. Biochem. Biophys. Res. Commun. 271 (2000) 392-400
24. In: Guthrie C., and Fink G. (Eds). Guide to Yeast Genetics and Molecular Biology. Methods in Enzymology vol. 194 (1991), Academic Press, Inc., San Diego
25. Alani E., Cao L., and Kleckner N. A method for gene disruption that allows repeated use of URA3 selection in the construction of multiply disrupted yeast strains. Genetics 116 (1987) 541-545
26. Belli G., Gari E., Aldea M., and Herrero E. Functional analysis of yeast essential genes using a promoter-substitution cassette and the tetracycline-regulatable dual expression system. Yeast 14 (1998) 1127-1138
27. Belli G., Gari E., Piedrafita L., Aldea M., and Herrero E. An activator/repressor dual system allows tight tetracycline-regulated gene expression in budding yeast. Nucleic Acids Res. 26 (1998) 942-947
28. Johnston M. A model fungal gene regulatory mechanism: the GAL genes of Saccharomyces cerevisiae. Microbiol. Rev. 51 (1987) 458-476
29. Henderson J.M., Wells L., and Fridovich-Keil J.L. Covalent heterogeneity of the human enzyme galactose-1-phosphate uridylyltransferase. J. Biol. Chem. 275 (2000) 30088-30091
30. Gitzelmann R. Galactose-1-phosphate in the pathophysiology of galactosemia. Eur. J. Pediatr. 154 Suppl. 2 (1995) S45-S49
31. Bhat P.J. Galactose-1-phosphate is a regulator of inositol monophosphatase: a fact or a fiction?. Med. Hypotheses 60 (2003) 123-128
32. Xu Y.-K., Kaufman F.R., Donnell G.N., Giudici T., Alfi O., and Ng W.G. HPLC analysis of uridine diphosphate sugars: decreased concentrations of uridine diphosphate galactose in erythrocytes and cultured skin fibroblasts from classical galactosemia patients. Clin. Chim. Acta 240 (1995) 21-33
33. Segal S. Defective galactosylation in galactosemia: is low cell UDP galactose an explanation?. Eur. J. Pediatr. 154 (1995) S65-S71
34. Lai K., Langley S., Khwaja F., Schmitt E., and Elsas L. GALT deficiency causes UDP-hexose deficit in human galactosemic cells. Glycobiology 13 (2003) 285-294
35. Schulz J., Ross K., Malmstrom K., Krieger M., and Fridovich-Keil J. Mediators of galactose sensitivity in UDP-galactose 4′-epimerase-impaired mammalian cells. J. Biol. Chem. 280 (2005) 13493-13502