Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme

Blood

Volumn 87, Issue 7, 1996, Pages 2974-2982

  Naylor, C E ^b   Rowland, P ^b   Basak, A K ^b   Gover, S ^b   Mason, P J ^b   Bautista, J M ^b   Vulliamy, T J ^b   Luzzatto, L ^b   Adams, M J ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

ARTICLE; ENZYME DEFICIENCY; ENZYME STABILITY; ENZYME STRUCTURE; GENE CLUSTER; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; PENTOSE PHOSPHATE CYCLE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN TERTIARY STRUCTURE; SEQUENCE HOMOLOGY;

EID: 0029879674     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v87.7.2974.bloodjournal8772974     Document Type: Article

References (42)

1. Luzzatto L, Mehta A: Glucose-6-phosphate deficency, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease (ed 7). New York, NY, McGraw-Hill, 1995, p 3367
2. Greene LS: G6PD deficiency as protection against falciparum-malaria - An epidemiologic critique of population and experimental studies. Yearbook Physi Anthropol 36:153, 1993
3. Persico MG, Viglietto G, Martini G, Toniolo D, Paonessa G, Moscatelli C, Dono R, Vulliamy T, Luzzatto L, D'Urso M: Isolation of human glucose 6-phosphate (G6PD) cDNA clones: Primary structure of the protein and unusual 5′ non-coding region. Nucleic Acids Res 14:2511, 1986
4. Vulliamy TJ, Beutler E, Luzzatto L: Variants of glucose 6-phosphate dehydrogenase are due to mis-sense mutations spread throughout the coding region of the gene. Hum Mutat 2:159, 1993
5. Hirono A, Miwa S: Human glucose-6-phosphate dehydrogenase: Structure and function of normal and variant enzymes. Haematologia (Budap) 25:85, 1993
6. Rowland P, Basak AK, Gover S, Levy HR, Adams MJ: The 3-dimensional structure of glucose 6-phosphate dehydrogenase from Leuconostoc mesenteroides refined at 2.0 Å resolution. Structure 2:1073, 1994
7. Cancedda R, Ogunmola G, Luzzatto L: Genetic variants of human erythrocyte glucose 6-phosphate dehydrogenase. Discrete conformational states stabilised by NADP+ and NADPH. Eur J Biochem 34:199, 1973
8. Levy HR: Glucose 6-phosphate dehydrogenases. Adv Enzymol Relat Areas Mol Biol 48:97, 1979
9. Lee WT, Flynn TG, Lyons C, Levy HR: Cloning of the gene and amino acid sequence for glucose 6-phosphate dehydrogenase from Leuconostoc mesenteroides. J Biol Chem 266:13028, 1991
10. Scanlan DJ, Newman J, Sebaihia M, Mann NH, Carr NG: Cloning and sequence analysis of the glucose-6-phosphate dehydrogenase gene from the cyanobacterium Synechococcus PCC 7942. Plant Mol Biol 19:877, 1992
11. Barnell W, Yi KC, Conway T: Sequence and genetic organisation of a Zymomonas mobilis gene cluster that encodes several enzymes of glucose metabolism. J Bacteriol 172:7227, 1990
12. Nogae I, Johnston M: Isolation and characterization of the ZWFI gene of Saccharomyces cerevisiae, encoding glucose 6-phosphate dehydrogenase. Gene 96:161, 1990
13. Fouts D, Ganguly R, Gutierrez AG, Lucchesi JC, Manning JE: Nucleotide sequence of the Drosophila glucose 6-phosphate dehydrogenase gene and comparison with the homologous human gene. Gene 63:261, 1988
14. Ho Y-S, Howard AJ, Crapo JD: Cloning and sequence of a cDNA encoding rat glucose 6-phosphate dehydrogenase. Nucleic Acids Res 16:7746, 1988
15. Toniolo D, Filippi M, Dono R, Lettieri T, Martini G: The CpG island in the 5′ region of the G6PD gene of man and mouse. Gene 102:197, 1991
16. Rowley DL, Wolf RE Jr: Molecular characterization of the Escherichia coli K-12 zwf gene encoding glucose 6-phosphate dehydrogenase. J Bacteriol 173:968, 1991
17. 16a. Sidman KE, George DE, Barker WC, Hunt L: The Protein Identification Resource (PIR). Nucleic Acids Res 16(S):1869, 1988
18. O'Brien E, Kurdi-Haidar B, Wanachiwanawin W, Carvajal J-L, Vulliamy TJ, Cappadoro M, Mason PJ, Luzzatto L: Cloning of the glucose 6-phosphate dehydrogenase gene from Plasmodium falciparum. Mol Biochem Parasitol 64:313, 1994
19. Jeffery J, Persson B, Wood I, Bergman T, Jeffery R, Jörnvall H: Glucose-6-phosphate dehydrogenase. Structure-function relationships and the Pichia jadinii enzyme Eur J Biochem 212:41, 1993
20. Barton GJ: Protein multiple sequence alignment and flexible pattern matching. Methods Enzymol 183:403, 1990
21. Kabsch W, Sander C: Dictionary of protein secondary structure: Pattern recognition of hydrogen bonded and geometrical features. Biopolymers 22:2577, 1983
22. Jones TA, Kjeldgaard M: O - The manual (Version 5.9). Uppsala University, Sweden, 1993
23. Brünger AT: X-PLOR. Version 3.1. A system for X-ray crystallography and NMR. New Haven, CT, Yale University Press, 1992
24. Rossmann MG, Liljas A, Brändèn CI, Banaszak LJ: Evolutionary and structural relationships among dehydrogenases, in Boyer PD (ed): The Enzymes Vol XI (ed 3). New York, NY, Academic, 1975, p 61
25. Xu WM, Westwood B, Bartsocas CS, Malcorraazpiazu JJ, Indrak K, Beutler E: Glucose-6-phosphate-dehydrogenase mutations and haplotypes in various ethnic-groups. Blood 85:257, 1995
26. Hirono A, Fujii H, Shima M, Miwa S: G6PD Nara - A new class-1 glucose-6-phosphate-dehydrogenase variant with an 8 amino-acid deletion. Blood 82:3250, 1993
27. Beutler E, Kuhl W, Gelbart T, Forman LJ: DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants. J Biol Chem 266:4145, 1991
28. Poggi V, Town M, Foulkes NS, Luzzatto L: Identification a single base change in a new human mutant glucose-6-phosphate dehydrogenase gene by polymerase-chain-amplification of the entire coding region from genomic DNA. Biochem J 271:157, 1990
29. Mason PJ, Sonati MF, MacDonald D, Lanza C, Busutil D, Town M, Corcoran CM, Kaeda JS, Stevens D, Al-Ismail S, Altay C, Hatton C, Lewis DS, McMullin MF, Meloni T, Paul B, Pippard M, Prentice AG, Vulliamy TJ, Luzzatto L: New glucose-6-phosphate dehydrogenase mutations associated with chronic anaemia. Blood 85:1377, 1995
30. Hirono A, Kuhl W, Gelbart T, Forman L, Fairbanks VF, Beutler E: Identification of the binding domain for NADP of human glucose-6-phosphate dehydrogenase. Proc Natl Acad Sci USA 86:10015, 1989
31. Corrons JLV, Rovira A, Pujades A, Vulliamy T, Luzzatto L: Molecular heterogeneity of glucose-6-phosphate-dehydrogenase (G6PD) in Spain and identification of 2 new base substitutions in the G6PD gene. Blood 84:551a, 1994 (abstr, suppl 1)
32. Beutler E, Westwood B, Prchal JT, Vaca CS, Bartocas CS, Baronciani L: New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. Blood 80:255, 1992
33. Hirono A, Fujii H, Hirono K, Kanno H, Miwa S: Molecular abnormality of a Japanese glucose-6-phosphate-dehydrogenase variant (G6PD Tokyo) associated with chronic non-spherocytic hemolyticanemia. Hum Genet 88:347, 1992
34. Beutler E, Kuhl W, Saenz GF, Rodriguez W: Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica. Hum Genet 87:462, 1991
35. Hirono A, Nakayama S, Fujii H, Miwa S: Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Kobe) associated with a greatly increased affinity for galactose-6-phosphate. Am J Haematol 45:185, 1994
36. Vulliamy TJ, D'Urso M, Battistuzzi G, Estrada M, Foulks NS, Martini G, Calabro V, Poggi V, Giodono R, Town M, Luzzatto L, Persico MG: Diverse point mutations in the human glucose 6-phosphate dehydrogenase gene cause enzyme defieciency and mild or severe hemolytic anaemia. Proc Natl Acad Sci USA 85:5171, 1988
37. Bonsignore A, Cancedda R, Nicolini A, Damiani G, De Flora A: Metabolism of human erythrocyte glucose-6-phosphate dehydrogenase - VI. Interconversion of multiple molecular forms. Arch Biochem Biophys 147:493, 1971
38. Haghighi B, Levy HR: Glucose-6-phosphate dehydrogenase from Leuconostoc mesenteroides. Kinetics of reassociation and reactivation from active subunits. Biochemistry 21:6429, 1982
39. Hirono A, Beutler E: Molecular cloning and cDNA sequence for human glucose-6-phosphate dehydrogenase. Proc Natl Acad Sci USA 85:3951, 1988
40. Town M, Bautista JM, Mason PJ, Luzzatto L: Both mutations in G6PD A - are necessary to produce the G6PD deficient phenotype. Hum Mol Genet 1:171, 1992
41. Filosa S, Cai WW, Galanello R, Cao A, Demattia D, Schettini F, Martini G: A novel single-base mutation in the glucose-6-phosphate-dehydrogenase gene is associated with chronic non-spherocytic hemolytic-anemia. Hum Genet 94:560, 1994
42. Kraulis PJ: MOLSCRIPT: A program to produce both detailed and schematic plots of protein structures. J Appl Crystallogr 24:946, 1991