Phenotypic expression of pyruvate kinase deficiency and protection against malaria in a mouse model

Genes and Immunity

Volumn 5, Issue 3, 2004, Pages 168-175

  Min Oo, G ^a,b   Fortin, A ^c   Tam, M F ^b   Gros, Philippe ^a,b   Stevenson, M M ^b  

^a MCGILL UNIVERSITY   (Canada)

^b RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^c INSTITUTE FOR RESEARCH IN IMMUNOLOGY AND CANCER   (Canada)

Author keywords

Erythropoiesis; Hemolytic anemia; Malaria; Pyruvate kinase

Indexed keywords

GLOBIN; HEMOGLOBIN; NATURAL RESISTANCE ASSOCIATED MACROPHAGE PROTEIN 2; PYRUVATE KINASE; TRANSFERRIN RECEPTOR;

ANEMIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL COUNT; CELL POPULATION; CHROMOSOME 3; CONGENIC STRAIN; CONTROLLED STUDY; ENZYME DEFICIENCY; ERYTHROCYTE COUNT; ERYTHROID PRECURSOR CELL; EXTRAMEDULLARY HEMATOPOIESIS; FLOW CYTOMETRY; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENETIC RECOMBINATION; GENETIC SUSCEPTIBILITY; HEMATOLOGICAL PROCEDURES; HEMOGLOBIN DETERMINATION; HEMOLYTIC ANEMIA; HISTOPATHOLOGY; INFECTION RESISTANCE; LIVER; MALARIA; MOUSE; NONHUMAN; PHENOTYPE; PLASMODIUM CHABAUDI; PRIORITY JOURNAL; PROTEIN EXPRESSION; PYRUVATE KINASE DEFICIENCY; RETICULOCYTE COUNT; RETICULOCYTOSIS; SPLEEN CELL; SPLENOMEGALY;

ANEMIA, HEMOLYTIC; ANIMALS; CATION TRANSPORT PROTEINS; DISEASE MODELS, ANIMAL; ERYTHROCYTES; ERYTHROPOIESIS; GENETIC PREDISPOSITION TO DISEASE; GLOBINS; IMMUNITY, NATURAL; IRON-BINDING PROTEINS; MALARIA; MICE; MICE, CONGENIC; MICE, INBRED A; MICE, INBRED C57BL; PHENOTYPE; PLASMODIUM CHABAUDI; PYRUVATE KINASE; RECEPTORS, TRANSFERRIN; SPLENOMEGALY;

PLASMODIUM CHABAUDI;

EID: 3242803620     PISSN: 14664879     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.gene.6364069     Document Type: Article

References (39)

1. Hill AV. The immunogenetics of human infectious diseases. Annu Rev Immunol 1998; 16: 593-617.
2. Fortin A, Stevenson MM, Gros P. Susceptibility to malaria as a complex trait: big pressure from a tiny creature. Hum Mol Genet 2002; 11: 2469-2478.
3. Tournamille C, Colin Y, Cartron JP, Le Van Kim C. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nat Genet 1995; 10: 224-228.
4. Allison AC. Protection afforded by sickle-cell trait against subtertian malarial infection. BMJ 1954: 290-294.
5. Flint J, Hill AV, Bowden DK et al. High frequencies of alpha-thalassaemia are the result of natural selection by malaria. Nature 1986; 321: 744-750.
6. Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet 2001; 2: 245-255.
7. Tishkoff SA, Varkonyi R, Cahinhinan N et al. Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance. Science 2001; 293: 455-462.
8. Ruwende C, Hill A. Glucose-6-phosphate dehydrogenase deficiency and malaria. J Mol Med 1998; 76: 581-588.
9. Bunyaratvej A, Butthep P, Kaewkettong P, Yuthavong Y. Malaria protection in hereditary ovalocytosis: relation to red cell deformability, red cell parameters and degree of ovalocytosis. Southeast Asian J Trop Med Public Health 1997; 28: 38-42.
10. Patel SS, Mehlotra RK, Kastens W, Mgone CS, Kazura JW, Zimmerman PA. The association of the glycophorin C exon 3 deletion with ovalocytosis and malaria susceptibility in the Wosera, Papua New Guinea. Blood 2001; 98: 3489-3491.
11. Hill AV, Allsopp CE, Kwiatkowski D et al. Common west African HLA antigens are associated with protection from severe malaria. Nature 1991; 352: 595-600.
12. McGuire W, Hill AV, Allsopp CE, Greenwood BM, Kwiatkowski D. Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria. Nature 1994; 371: 508-510.
13. Fortin A, Stevenson MM, Gros P. Complex genetic control of susceptibility to malaria in mice. Genes Immun 2002; 3: 177-186.
14. Foote SJ, Burt RA, Baldwin TM et al. Mouse loci for malaria-induced mortality and the control of parasitaemia. Nat Genet 1997; 17: 380-381.
15. Fortin A, Belouchi A, Tam MF et al. Genetic control of blood parasitaemia in mouse malaria maps to chromosome 8. Nat Genet 1997; 17: 382-383.
16. Burt RA, Baldwin TM, Marshall VM, Foote SJ. Temporal expression of an H2-linked locus in host response to mouse malaria. Immunogenetics 1999; 50: 278-285.
17. Fortin A, Diez E, Rochefort D et al. Recombinant congenic strains derived from A/J and C57BL/6J: a tool for genetic dissection of complex traits. Genomics 2001; 74: 21-35.
18. Fortin A, Cardon LR, Tam M, Skamene E, Stevenson MM, Gros P. Identification of a new malaria susceptibility locus (Char4) in recombinant congenic strains of mice. Proc Natl Acad Sci USA 2001; 98: 10793-10798.
19. Min-Oo G, Fortin A, Tam MF, Nantel A, Stevenson MM, Gros P. Pyruvate kinase deficiency in mice protects against malaria. Nat Genet 2003; 35: 357-362.
20. Herzberg AJ. Color Atlas of Normal Cytology. Churchill Livingstone: New York, 1999, pp 256-263.
21. Morimoto M, Kanno H, Asai H et al. Pyruvate kinase deficiency of mice associated with nonspherocytic hemolytic anemia and cure of the anemia by marrow transplantation without host irradiation. Blood 1995; 86: 4323-4330.
22. Weatherall DJ, Clegg JB. Genetic variability in response to infection: malaria and after. Genes Immun 2002; 3: 331-337.
23. Shear HL, Roth Jr EF, Fabry ME et al. Transgenic mice expressing human sickle hemoglobin are partially resistant to rodent malaria. Blood 1993; 81: 222-226.
24. Shear HL, Roth Jr EF, Ng C, Nagel RL. Resistance to malaria in ankyrin and spectrin deficient mice. Br J Haematol 1991; 78: 555-560.
25. Yuthavong Y, Bunyaratvej A, Kamchonwongpaisan S. Increased susceptibility of malaria-infected variant erythrocytes to the mononuclear phagocyte system. Blood Cells 1990; 16: 591-597.
26. Modiano D, Luoni G, Sirima BS et al. Haemoglobin C protects against clinical Plasmodium falciparum malaria. Nature 2001; 414: 305-308.
27. Allen SJ, O'Donnell A, Alexander ND et al. alpha+-Thalassemia protects children against disease caused by other infections as well as malaria. Proc Natl Acad Sci USA 1997; 94: 14736-14741.
28. Fairhurst RM, Fujioka H, Hayton K, Collins KF, Wellems TE. Aberrant development of Plasmodium falciparum in hemoglobin CC red cells: implications for the malaria protective effect of the homozygous state. Blood 2003; 101: 3309-3315.
29. Ruwende C, Khoo SC, Snow RW et al. Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria. Nature 1995; 376: 246-249.
30. McMullin MF. The molecular basis of disorders of red cell enzymes. J Clin Pathol 1999; 52: 241-244.
31. Jacobasch G, Rapoport SM. Hemolytic anemias due to erythrocyte enzyme deficiencies. Mol Aspects Med 1996; 17: 143-170.
32. Roth Jr E. Plasmodium falciparum carbohydrate metabolism: a connection between host cell and parasite. Blood Cells 1990; 16: 453-460 (discussion 461-456).
33. Zanella A, Bianchi P. Red cell pyruvate kinase deficiency: from genetics to clinical manifestations. Baillieres Best Pract Res Clin Haematol 2000; 13: 57-81.
34. Oelshlegel Jr FJ, Sander BJ, Brewer GJ. Pyruvate kinase in malaria host-parasite interaction. Nature 1975; 255: 345-347.
35. Demant P, Hart AA. Recombinant congenic strains - a new tool for analyzing genetic traits determined by more than one gene. Immunogenetics 1986; 24: 416-422.
36. Yap GS, Stevenson MM. Plasmodium chabaudi AS: erythropoietic responses during infection in resistant and susceptible mice. Exp Parasitol 1992; 75: 340-352.
37. Stevenson MM, Lyanga JJ, Skamene E. Murine malaria: genetic control of resistance to Plasmodium chabaudi. Infect Immun 1982; 38: 80-88.
38. Sebastiani G, Blais V, Sancho V et al. Host immune response to Salmonella enterica serovar Typhimurium infection in mice derived from wild strains. Infect Immun 2002; 70: 1997-2009.
39. Lam-Yuk-Tseung S, Govoni G, Forbes J, Gros P. Iron transport by Nramp2/DMT1: pH regulation of transport by 2 histidines in transmembrane domain 6. Blood 2003; 101: 3699-3707.