Hematologically important mutations: Red cell pyruvate kinase (third update)

Blood Cells, Molecules, and Diseases

Volumn 26, Issue 1, 2000, Pages 47-53

  Bianchi, Paola ^a   Zanella, Alberto ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PYRUVATE KINASE;

AMINO ACID SUBSTITUTION; ERYTHROCYTE; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVIEW;

EID: 0034144666     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2000.0276     Document Type: Article

References (50)

1. 1. Zanella A, Bianchi P. Red cell pyruvate kinase (PK) deficiency: From genetics to clinical manifestations. In: Zanella A, ed. Red Cell Disorders of Metabolism, London: Bailliere's Clin Haematol, in press.
2. 2. Miwa S, Kanno H, Fujii H. Pyruvate kinase deficiency: Historical perspective and recent progress of molecular genetics. Am J Hematol 42:31-35, 1993.
3. 3. Beutler E, Baronciani L. Mutations in pyruvate kinase. Hum Mutat 7:1-6, 1996.
4. 4. van Solinge WW, van Wijk HA, Kraaijenhagen RJ, Rijksen G, Nielsen FC. Novel mutations in the human red cell type pyruvate kinase gene: Two promoter mutations in cis, a splice site mutation, a nonsense-and three missense mutations. Blood 90(Suppl 1): 1197, 1997. [abstract]
5. 5. Kugler W, Laspe P, Stahl M, Schroter W, Lakomek M. Identification of a novel promoter mutation in the human pyruvate kinase (PK) LR gene of a patient with severe haemolytic anaemia. Br J Haematol 105:596-598, 1999.
6. 6. Manco L, Ribeiro ML, Almeida H, et al. The regulatory/promote -72A-G mutation. A point mutation A-G on nucleotide 72 upstream of the initiation codon of the PKLR gene. Hum Genet 105:188, 1999.
7. 7. Lenzner C, Nürnberg P, Thiele B-J, et al. Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia. Blood 83:2817-2822, 1994.
8. 8. Beutler E, Westwood B, van Zwieten R, Roos D. G → T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP. Hum Mutat 9:282-285, 1997.
9. 9. Kugler W, Willaschek C, Holz C, et al. Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia. Unpublished, 1999.
10. 10. Zanella A, Bianchi P, Baronciani L, et al. Molecular characterization of PK-LR gene in pyruvate kinase deficient patients. Blood 89:3847-3852, 1997.
11. 11. Uenaka R, Nakajima H, Noguchi T, et al. Compound heterozygous mutations affecting both hepatic and erythrocyte isozymes of pyruvate kinase. Biochem Biophys Res Commun 208:991-998, 1995.
12. 12. Kanno H, Tanphaichitr VS, Fujii H, Miwa S. Unpublished, 1998.
13. 13. Kanno H, Fujii H, Wei DC, et al. Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency. Blood 89:4213-4218, 1997.
14. 14. Baronciani L, Beutler E. Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia. J Clin Invest 95:1702-1709, 1995.
15. 15. Baronciani L, Magalhes IQ, Mahoney DH, Jr, et al. Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia. Blood Cells Mol Dis 21:49-55, 1995.
16. 16. Rouger H, Valentin C, Craescu CT, Galacteros F, Cohen Solal M. Five unknown mutations in the LR pyruvate kinase gene associated with severe hereditary nonspherocytic haemolytic anaemia in France. Br J Haematol 92:825-830, 1996.
17. 17. Cohen-Solal M, Prehu C, Wajcman H, et al. A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha2 globin gene variant (Hb Conakry). Br J Haematol 103:950-956, 1998.
18. 18. Baronciani L, Beutler E. Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia. Proc Natl Acad Sci USA 90:4324-4327, 1993.
19. 19. Kanno H, Fujii H, Miwa S. Molecular heterogeneity of pyruvate kinase deficiency identified by single strand conformational polymorphism (SSCP) analysis. Blood 84(Suppl 1):13a, 1994. [abstract]
20. 20. Demina A, Varughese KI, Barbot J, Forman L, Beutler, E. Six previously undescribed pyruvate kinase mutations causing enzyme deficiency. Blood 92:647-652, 1998.
21. 21. Neubauer B, Lakomek M, Winkler H, Parke M, Hofferbert S, Schröter W. Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency. Blood 77:1871-1875, 1991.
22. 22. Zarza R, Alvarez R, Pujades A, et al. Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Br J Haematol 103:377-382, 1998.
23. 23. Kanno H, Fujii H, Tsujino G, Sako M, Hosokawa T, Miwa S. Unpublished, 1998.
24. 24. Lenzner C, Nurnberg P, Jacobasch G, Gerth C, Thiele B-J. Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia. Blood 89:1793-1799, 1997.
25. 25. Kanno H, Fujii H, Hirono A, Miwa S. Unpublished, 1998.
26. 26. Bianchi P, Baronciani L, Zappa M, et al. Original mutations in the LR-PK gene associated with chronic non-spherocytic, hemolytic anemia. Blood 92(Suppl 1):3b, 1988. [abstract]
27. 27. Lakomek M, Huppke P, Neubauer B, Pekrun A, Winkler H, Schröter W. Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency. Ann Hematol 68:253-260, 1994.
28. 28. Zanella A, et al. Unpublished, 1999.
29. 29. Lakomek et al. Unpublished, 1999.
30. 30. van Solinge WW, van Wijk R, Kraaijenhagen RJ, Rijksen G, Nielsen FC. Identification of a novel mutation (PK-Dordrecht) and a novel polymorphism in the human red cell type pyruvate kinase gene. Br J Haematol 93(Suppl 2):733, 1996. [abstract]
31. 31. Kanno H, Wei DC, Chan LC, et al. Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong. Blood 84:3505-3509, 1994.
32. 32. Layton DM, Kanno H, Arya R, et al. Molecular basis of severe pyruvate kinase deficiency. Br J Haematol 93(Suppl 1):323, 1996. [abstract]
33. 33. Pastore L, Della Morte R, Frisso G, et al. Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy. Hum Mutat 11:127-134, 1998.
34. 1091 to A mutation causing severe nonspherocytic hemolytic anemia. Blood 90:4987-4995, 1997.
35. 35. Kanno H, Fujii H, Tsujino G, Miwa S. Molecular basis of impaired pyruvate kinase isozyme conversion in erythroid cells: A single amino acid substitution near the active site and decreased mRNA content of the R-type PK. Biochem Biophys Res Commun 192:46-52, 1993.
36. 384 → Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia. Proc Natl Acad Sci USA 88:8218-8221, 1991.
37. 37. Kanno H, Fujii H, Hirono A, Omine M, Miwa S. Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia. Blood 79: 1347-1350, 1992.
38. 38. Rouger H, Girodon E, Goossens M, Galacteros F, Cohen Solal M. PK Mondor: Prenatal diagnosis of a frameshift mutation in the LR pyruvate kinase gene associated with severe hereditary non-spherocytic haemolytic anaemia. Prenat Diagn 16:97-104, 1996.
39. 39. Kanno H, Fujii H, Miwa S. Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg → Gln) associated with hereditary hemolytic anemia. Blood 81: 2439-2441, 1993.
40. 40. Kanno H, Ballas SK, Miwa S, Fujii H, Bowman HS. Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish. Blood 83:2311-2316, 1994.
41. 41. Kanno H, Fujii H, Miwa S. Monoallelic expression of pyruvate kinase (PK) gene in the two PK variants associated with hereditary hemolytic anemia. Blood 86(Suppl 1):133a, 1995. [abstract]
42. 42. Fujii H, Kanno H, Akaba K, Hayasaka K, Miwa S. Exonic point mutation 1552 CGT → AGT is not a missense mutation but causes an aberrant splicing of human L-type pyruvate kinase gene. Blood 90(Suppl 1):2700, 1998. [abstract]
43. 43. van Solinge WW, Nielsen FC, van Wijk R, et al. A novel mutation in the human red cell type pyruvate kinase gene causing hereditary nonspherocytic hemolytic anemia. Br J Haematol 93(Suppl 2):150, 1996. [abstract]
44. 44. Manco L, et al. Unpublished, 1999.
45. 45. Baronciani L, Westwood B, Beutler E. Study of the molecular defects in pyruvate kinase (PK) deficient patients affected by hereditary nonspherocytic hemolytic anemia (HNHA). J Invest Med 43:341, 1995. [abstract]
46. 46. Fujii H, Kanno H, Miwa S. Cumulative information of genotype-phenotype relationship of the homozygous pyruvate kinase deficiency. Blood 86:133a, 1995. [abstract]
47. 47. Lenzner C, Nurnberg P, Jacobasch G, Thiele B-J. Complete genomic sequence of the human PK-L/R-gene includes four intragenic polymorphisms defining different haplotype backgrounds of normal and mutant PK-genes. DNA Seq 8:45-53, 1997.
48. 48. Lenzner C, Jacobasch G, Reis A, Thiele B-J, Nürnberg P. Trinucleotide repeat polymorphism at the PKLR locus. Hum Mol Genet 3:523, 1994.
49. 49. Manco L, Riberio ML, Almeida H, Freitas O, Abade A, Tamagnini G. PK-LR gene mutations in pyruvate kinase deficient Portuguese patients. Br J Haematol 105:591-595, 1999.
50. 50. Beutler E, Gelbart T. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population. Blood, in press.