Genomes and Genes
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
- 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 pubmedMouse 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...
- 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. ..
- 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. ..
- 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. ..
- 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...
- 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. ..
- 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...
- 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. ..
- 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
- 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. ..
- 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
- 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. ..
- 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) ..
- 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. ..
- 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. ..
- 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. ..
- Desbois C, Seldin M, Karsenty G. Localization of the osteocalcin gene cluster on mouse chromosome 3. Mamm Genome. 1994;5:321-2 pubmed
- 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. ..
- 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
- 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. ..
- 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 publisherResistance 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...
- 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. ..
- 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. ..
- 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
- 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-..
- 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. ..
- 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. ..