Pklr

Summary

Gene Symbol: Pklr
Description: pyruvate kinase liver and red blood cell
Alias: Pk-1, Pk1, R-PK, pyruvate kinase PKLR, L-PK, pyruvate kinase isozymes L/R, pyruvate kinase isozymes R/L
Species: mouse
Products:     Pklr

Top Publications

  1. Kanno H, Morimoto M, Fujii H, Tsujimura T, Asai H, Noguchi T, et al. Primary structure of murine red blood cell-type pyruvate kinase (PK) and molecular characterization of PK deficiency identified in the CBA strain. Blood. 1995;86:3205-10 pubmed
  2. Min oo G, Fortin A, Tam M, Nantel A, Stevenson M, Gros P. Pyruvate kinase deficiency in mice protects against malaria. Nat Genet. 2003;35:357-62 pubmed
    ..loss-of-function mutation (269T-->A, resulting in the amino acid substitution I90N) in the pyruvate kinase gene (Pklr) that underlies the malaria resistance in AcB55 and AcB61...
  3. Morimoto M, Kanno H, Asai H, Tsujimura T, Fujii H, Moriyama Y, 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;86:4323-30 pubmed
    ..The present results indicate that CBA-Pk-1slc/Pk-1slc mice are a potentially useful animal model for studying pathophysiology of PK deficiency and for developing new therapeutic methods to correct PK deficiency. ..
  4. Min oo G, Tam M, Stevenson M, Gros P. Pyruvate kinase deficiency: correlation between enzyme activity, extent of hemolytic anemia and protection against malaria in independent mouse mutants. Blood Cells Mol Dis. 2007;39:63-9 pubmed
    ..AcB61 and CBA/N-Pk(slc) mice carry loss of function mutations in the erythrocyte specific pyruvate kinase gene (Pklr). In AcB55 and AcB61 (Pklr(I90N)) PK deficiency is protective against blood-stage malaria...
  5. Charles D, Pretsch W. A new pyruvate kinase mutation with hyperactivity in the mouse. Biochem Genet. 1984;22:1103-17 pubmed
    ..It is suggested that the regulatory locus of PK-1 is affected by this mutation. The observations support also the theory of one structural locus for the erythrocyte and liver isozymes. ..
  6. Guevara Fujita M, Loechel R, Venta P, Yuzbasiyan Gurkan V, Brewer G. Chromosomal assignment of seven genes on canine chromosomes by fluorescence in situ hybridization. Mamm Genome. 1996;7:268-70 pubmed
    ..These assignments are based on the karyotype proposed by Stone and associates (Genome 34, 407, 1991) using high-resolution techniques. In addition, we have assigned the Menkes gene to the X Chr of the dog. ..
  7. White R, McNulty S, Roman S, Garg U, Wirtz E, Kohlbrecher D, et al. Chromosomal localization, hematologic characterization, and iron metabolism of the hereditary erythroblastic anemia (hea) mutant mouse. Blood. 2004;104:1511-8 pubmed
    ..When this diet is removed there is reversion to anemia with concomitant loss of overloaded iron stores. We speculate that the hea/fsn gene is required for iron uptake into erythropoietic cells and for kidney iron reabsorption. ..
  8. Hernandez Valladares M, Naessens J, Iraqi F. Genetic resistance to malaria in mouse models. Trends Parasitol. 2005;21:352-5 pubmed
    ..Further studies using this method have identified a Pklr variant that confers resistance to murine malaria, a result that shows the potential of this approach to aid the ..
  9. Shao H, Pandey A, O Shea K, Seldin M, Dixit V. Characterization of B61, the ligand for the Eck receptor protein-tyrosine kinase. J Biol Chem. 1995;270:5636-41 pubmed
    ..Finally, the gene for B61 was localized to a specific position on mouse chromosome 3 by interspecific back-cross analysis. ..

More Information

Publications36

  1. Min oo G, Fortin A, Pitari G, Tam M, Stevenson M, Gros P. Complex genetic control of susceptibility to malaria: positional cloning of the Char9 locus. J Exp Med. 2007;204:511-24 pubmed
    Mouse strains AcB55 and AcB61 are resistant to malaria by virtue of a mutation in erythrocyte pyruvate kinase (Pklr(I90N)). Linkage analysis in [AcB55 x A/J] F2 mice detected a second locus (Char9; logarithm of odds = 4...
  2. Dayton T, Gocheva V, Miller K, Israelsen W, Bhutkar A, Clish C, et al. Germline loss of PKM2 promotes metabolic distress and hepatocellular carcinoma. Genes Dev. 2016;30:1020-33 pubmed publisher
    ..Therefore, in addition to its role in cancer metabolism, PKM2 plays a role in controlling systemic metabolic homeostasis and inflammation, thereby preventing HCC by a non-cell-autonomous mechanism. ..
  3. Aisaki K, Aizawa S, Fujii H, Kanno J, Kanno H. Glycolytic inhibition by mutation of pyruvate kinase gene increases oxidative stress and causes apoptosis of a pyruvate kinase deficient cell line. Exp Hematol. 2007;35:1190-200 pubmed
    ..Thus, R-PK plays an important role as an antioxidant during erythroid differentiation. ..
  4. Kaestner K, Katz J, Liu Y, Drucker D, Schutz G. Inactivation of the winged helix transcription factor HNF3alpha affects glucose homeostasis and islet glucagon gene expression in vivo. Genes Dev. 1999;13:495-504 pubmed
    ..We also showed that HNF3alpha could bind to and transactivate the proglucagon gene promoter. These observations invoke a central role for HNF3alpha in the regulatory control of islet genes essential for glucose homeostasis in vivo. ..
  5. Karim S, Johnson K, Griffiths I, Vouyiouklis D. A physical map of the genomic region on mouse chromosome 3 containing the hindshaker (hsh) mutation. Genomics. 2004;83:225-30 pubmed
    ..Accordingly, our findings both map the area surrounding the hsh mutation and present important corrections to the current maps in an area rich in genes related to the nervous system...
  6. Cheng J, Morisaki H, Toyama K, Ikawa M, Okabe M, Morisaki T. AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency. Genes Cells. 2012;17:913-22 pubmed publisher
    ..In conclusion, AMPD3 deficiency increases the level of ATP in erythrocytes, but does not improve anemia due to PK deficiency and leads to erythrocyte dysfunction. ..
  7. Roy M, Riendeau N, Bédard C, Helie P, Min oo G, Turcotte K, et al. Pyruvate kinase deficiency confers susceptibility to Salmonella typhimurium infection in mice. J Exp Med. 2007;204:2949-61 pubmed
    ..odds score associated with Ity4 maps to the region of the liver and red blood cell (RBC)-specific pyruvate kinase (Pklr) gene, which was previously shown to be mutated in AcB61...
  8. Aizawa S, Harada T, Kanbe E, Tsuboi I, Aisaki K, Fujii H, et al. Ineffective erythropoiesis in mutant mice with deficient pyruvate kinase activity. Exp Hematol. 2005;33:1292-8 pubmed
    ..The results in this study indicate that the metabolic disturbance in PK deficiency alters not only the survival of red cells but also the maturation of erythroid progenitors, resulting in ineffective erythropoiesis. ..
  9. Kingsmore S, Spicer A, Gendler S, Seldin M. Genetic mapping of the tumor-associated mucin 1 gene on mouse chromosome 3. Mamm Genome. 1995;6:378-9 pubmed
  10. Peters J, Nash H, Eicher E, Bulfield G. Polymorphism of kidney pyruvate kinase in the mouse is determined by a gene, Pk-3, on chromosome 9. Biochem Genet. 1981;19:757-69 pubmed
    ..In addition, our results indicate that the muscle (M1) and kidney (M2) pyruvate kinase isozymes share at least one genetic determinant and may in fact be determined by the same structural gene. ..
  11. Tsujino K, Kanno H, Hashimoto K, Fujii H, Jippo T, Morii E, et al. Delayed onset of hemolytic anemia in CBA-Pk-1slc/Pk-1slc mice with a point mutation of the gene encoding red blood cell type pyruvate kinase. Blood. 1998;91:2169-74 pubmed
  12. Kanno H, Utsugisawa T, Aizawa S, Koizumi T, Aisaki K, Hamada T, et al. Transgenic rescue of hemolytic anemia due to red blood cell pyruvate kinase deficiency. Haematologica. 2007;92:731-7 pubmed
    ..This gene-addition strategy may be suitable for clinical application if there is a high level of transgene expression of R-PK in erythroid progenitors/red blood cells. ..
  13. Valdimarsson G, De Sousa P, Kidder G. Coexpression of gap junction proteins in the cumulus-oocyte complex. Mol Reprod Dev. 1993;36:7-15 pubmed
    ..We could find no evidence of the incorporation of the oocyte's store of Cx32 into gap junctions during postfertilization development.(ABSTRACT TRUNCATED AT 250 WORDS) ..
  14. Klinga Levan K, Andersson A, Hanson C, Ridderström M, Stenberg G, Mannervik B, et al. Mapping of glutathione transferase (GST) genes in the rat. Hereditas. 1993;119:285-96 pubmed
    ..Interestingly, each of the three groups of conserved synteny seems to span the region across the centromeres of the human chromosomes. ..
  15. Sola B, Simon D, Mattei M, Fichelson S, Bordereaux D, Tambourin P, et al. Fim-1, Fim-2/c-fms, and Fim-3, three common integration sites of Friend murine leukemia virus in myeloblastic leukemias, map to mouse chromosomes 13, 18, and 3, respectively. J Virol. 1988;62:3973-8 pubmed
    ..Fim-2 spans the 5' end of the c-fms gene, which encodes for the macrophage-colony-stimulating factor receptor. We located the c-fms gene on the D band of chromosome 18 by in situ hybridization. ..
  16. Wolfrum C, Asilmaz E, Luca E, Friedman J, Stoffel M. Foxa2 regulates lipid metabolism and ketogenesis in the liver during fasting and in diabetes. Nature. 2004;432:1027-32 pubmed
    ..Pharmacological intervention to inhibit phosphorylation of Foxa2 may be an effective treatment for type 2 diabetes. ..
  17. Desbois C, Seldin M, Karsenty G. Localization of the osteocalcin gene cluster on mouse chromosome 3. Mamm Genome. 1994;5:321-2 pubmed
  18. Moore K, Bulfield G. An allele (Pk-1b) from wild-caught mice that affects the activity and kinetics of erythrocyte and liver pyruvate kinase. Biochem Genet. 1981;19:771-81 pubmed
    ..It is concluded that Pk-1 is the structural gene for the erythrocyte and the major liver pyruvate kinase. No other tissue pyruvate kinase showed altered characteristics. ..
  19. Gisselbrecht S, Sola B, Fichelson S, Bordereaux D, Tambourin P, Mattei M, et al. The murine M-CSF gene is localized on chromosome 3. Blood. 1989;73:1742-5 pubmed
  20. Bessis A, Simon Chazottes D, Devillers Thiery A, Guenet J, Changeux J. Chromosomal localization of the mouse genes coding for alpha 2, alpha 3, alpha 4 and beta 2 subunits of neuronal nicotinic acetylcholine receptor. FEBS Lett. 1990;264:48-52 pubmed
    ..14, 9 and 3 respectively. Moreover, the alpha 4 subunit gene is located on chromosome 2 but is not genetically linked to the alpha 1 subunit gene. ..
  21. Min Oo G, Willemetz A, Tam M, Canonne Hergaux F, Stevenson M, Gros P. Mapping of Char10, a novel malaria susceptibility locus on mouse chromosome 9. Genes Immun. 2010;11:113-23 pubmed publisher
    Resistance to blood-stage malaria in AcB55 and AcB61 is caused by a loss of function mutation in pyruvate kinase (Pklr(I90N)). Likewise, pyruvate kinase (PK) deficiency in humans is protective against Plasmodium replication in vitro...
  22. Fitton L, Davidson M, Moore K, Charles D, Pretsch W, Elston R, et al. The liver/erythrocyte pyruvate kinase gene complex [Pk-1] in the mouse: regulatory gene mutations. Genet Res. 1991;58:233-41 pubmed
    ..The organization and the nomenclature in the [Pk-1] gene complex are discussed and are compared with the organization of other comprehensively analysed gene complexes in the mouse. ..
  23. Pretsch W. Enzyme-activity mutants in Mus musculus. I. Phenotypic description and genetic characterization of ethylnitrosourea-induced mutations. Mamm Genome. 2000;11:537-42 pubmed
    ..Genetic and biochemical characterizations were routinely performed. These mutants provide insight into the mechanism of ENU mutagenesis and can serve as models for structure-function studies of the corresponding enzymes. ..
  24. Oakey R, Howard T, Hogarth P, Tani K, Seldin M. Chromosomal mapping of the high affinity Fc gamma receptor gene. Immunogenetics. 1992;35:279-82 pubmed
  25. Zha H, Wilder R, Goldmuntz E, Cash J, Crofford L, Mathern P, et al. Linkage map of 10 polymorphic markers on rat chromosome 2. Cytogenet Cell Genet. 1993;63:117-23 pubmed
    ..9 cM with the following order: D2N1R-D2N28-FGG (gamma fibrinogen)-PKLR (liver and RBC pyruvate kinase)-ATP1A1 (the alpha-1 polypeptide of Na+/K+ transporting ATPase)-HSD3B (hydroxy-delta-..
  26. Pang C, Lemsaddek W, Alhashem Y, Bondzi C, Redmond L, Ah Son N, et al. Kruppel-like factor 1 (KLF1), KLF2, and Myc control a regulatory network essential for embryonic erythropoiesis. Mol Cell Biol. 2012;32:2628-44 pubmed publisher
    ..5 and E11.5. This study reveals a novel regulatory network by which KLF1 and KLF2 regulate Myc to control the primitive erythropoietic program. ..
  27. Dower N, Seldin M, Pugh S, Stone J. Organization and chromosomal locations of Rap1a/Krev sequences in the mouse. Mamm Genome. 1992;3:162-7 pubmed
    ..Rap1a-rs2 is more distantly related to the gene sequence and is located on Chr 2 near Actc-1. ..