Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia

American Journal of Human Genetics

Volumn 64, Issue 2, 1999, Pages 462-470

  Wohlers, Travis M ^a   Christacos, Nicole C ^a   Harreman, Michelle T ^a   Fridovich Keil, Judith L ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

METHIONINE; NICOTINAMIDE ADENINE DINUCLEOTIDE; URIDINE DIPHOSPHATE GLUCOSE 4 EPIMERASE; URIDINE DIPHOSPHATE N ACETYLGALACTOSAMINE; VALINE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; ENZYME STABILITY; ENZYMOLOGY; FEMALE; GALACTOSEMIA; GENE EXPRESSION REGULATION; GENETICS; HOMOZYGOTE; HUMAN; MALE; METABOLISM; MUTATION; PEDIGREE; YEAST;

ALLELES; AMINO ACID SUBSTITUTION; ENZYME STABILITY; FEMALE; GALACTOSEMIAS; GENE EXPRESSION REGULATION; HOMOZYGOTE; HUMANS; MALE; METHIONINE; MUTATION; NAD; PEDIGREE; UDPGLUCOSE 4-EPIMERASE; URIDINE DIPHOSPHATE N-ACETYLGALACTOSAMINE; VALINE; YEASTS;

EID: 0033073396     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302263     Document Type: Article

References (26)

1. Alano A, Almashanu S, Chinsky JM, Costeas P, Blitzer MG, Wulfsberg EA, Cowan TM (1998) Molecular characterization of a unique patient with epimerase-deficiency galactosaemia. J Inherit Metab Dis 21:341-350
2. Alano A, Almashanu S, Maceratesi P, Reichardt J, Panny S, Cowan TM (1997) UDP-galactose-4-epimerase deficiency among African-Americans: evidence for multiple alleles. J Invest Med 45:191A
3. Daude N, Gallaher TK, Zeschinigk M, Starzinski-Powitz A, Petry KG, Haworth IS, Reichardt JKV (1995) Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4′-epimerase. Biochem Mol Med 56:1-7
4. Elsevier JP, Wells L, Quimby BB, Fridovich-Keil JL (1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase. Proc Natl Acad Sci USA 93:7166-7171
5. Endres W, Shin YS (1990) Cataract and metabolic disease. J Inherit Metab Dis 13:509-516
6. Fridovich-Keil JL, Gudas J, Dou QP, Bouvard I, Pardee AB (1991) Growth-responsive expression from the murine thymidine kinase promoter: genetic analysis of DNA sequences. Cell Growth Differ 2:67-76
7. Fridovich-Keil JL, Langley SD, Mazur LA, Lennon JC, Dembure PP, Elsas LJ (1995a) Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family. Am J Hum Genet 56:640-646
8. Fridovich-Keil JL, Quimby BB, Wells L, Mazur LA, Elsevier JP (1995b) Characterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system. Biochem Mol Med 56:121-130
9. Henderson MJ, Holton JB (1983) Further observations in a case of uridine diposphate galactose-4-epimerase deficiency with a severe clinical presentation. J Inherit Metab Dis 6: 17-20
10. Holton J (1990) Galactose disorders: an overview. J Inherit Metab Dis 13:476-486
11. Holton JB, Gillett MG, MacFaul R, Young R (1981) Galactosemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. Arch Dis Child 56: 885-887
12. Jakobs C, Douwes AC, Brockstedt M, Stellaard F, Endres W, Shin YS (1990) Plasma polyol levels in patients with cataract. J Inherit Metab Dis 13:517-522
13. Kingsley D, Kozarsky KF, Hobbie L, Krieger M (1986a) Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-Gal/UDP-GalNAc 4-epimerase deficient mutant. Cell 44:749-759
14. Kingsley DM, Krieger M, Holton JB (1986b) Structure and function of low-density lipoprotein receptors in epimerase-deficient galactosemia. N Engl J Med 314:1257-1258
15. Maceratesi P, Daude N, Dallapiccola B, Novelli G, Allen R, Okano Y, Reichardt J (1998) Human UDP-galactose 4′ epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. Mol Genet Metab 63:26-30
16. Maley F, Maley GF (1959) The enzymatic conversion of glucosamine to galactosamine. Biochim Biophys Acta 31: 577-578
17. Mitchell B, Haigis E, Steinmann B, Gitzelmann R (1975) Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture. Proc Natl Acad Sci 72:5026-5030
18. Piller F, Hanlon MH, Hill RL (1983) Co-purification and characterization of UDP-glucose 4-epimerase and UDP-N-acetylglucosamine 4-epimerase from porcine submaxillary glands. J Biol Chem 258:10774-10778
19. Quimby BB, Alano A, Almashanu S, DeSandro AM, Cowan TM, Fridovich-Keil JL (1997) Characterization of two mutations associated with epimerase-deficiency galactosemia using a yeast expression system for human UDP-galactose-4-epimerase. Am J Hum Genet 61:590-598
20. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
21. Sardharwalla IB, Wraith JE, Bridge C, Fowler B, Roberts SA (1988) A patient with severe type of epimerase deficiency galactosemia. J Inherit Metab Dis 11:249-251
22. Schulpis KH, Papakonstantinou ED, Koidou A, Michelakakis H, Tzamouranis J, Patsouras A, Shin Y (1993) UDP galactose-4-epimerase deficiency in a 5.5-year-old girl with a unilateral cataract. J Inherit Metab Dis 16:903-904
23. Segal S, Berry G (1995) Disorders of galactose metabolism. In: Scriver C, Beaudet A, Sly W, Valle D (ed) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 967-1000
24. Thoden JB, Gulick AM, Holden HM (1997) Molecular structures of the S124A, S124T, and S124V site-directed mutants of UDP-galactose 4 epimerase from Escherichia coli. Biochemistry 36:10685-10695
25. Walter JH, Roberts REP, Besley GTN, Wraith JE, Cleary MA, Holton JB, MacFaul R. Generalised uridine diphosphate galactose-4-epimerase deficiency: a clinical review of 5 patients from 2 unrelated families. Arch Dis Child (in press)
26. Zydowsky LD, Ho SI, Baker CH, McIntyre K, Walsh CT (1992) Overexpression, purification, and characterization of yeast cyclophilins A and B. Protein Sci 1:961-969