Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia

Blood

Volumn 88, Issue 6, 1996, Pages 2321-2325

  Kanno, Hitoshi ^a   Fujii, Hisaichi ^b   Hirono, Akira ^b   Ishida, Yoji ^b   Ohga, Shoichi ^b   Fukumoto, Yasuhiko ^b   Matsuzawa, Kenji ^b   Ogawa, Satoru ^b   Miwa, Shiro ^b  

^a Okinaka Memorial Institute for Medical Research   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATE ISOMERASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; ENZYME ANALYSIS; ENZYME DEFICIENCY; FEMALE; HEREDITARY HEMOLYTIC ANEMIA; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

EID: 0029820018     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v88.6.2321.bloodjournal8862321     Document Type: Article

References (43)

1. West JD, Flockhart JH, Peters J, Ball ST: Death of mouse embryos that lack a functional gene for glucose phosphate isomerase. Genet Res Camb 56:223, 1990
2. Merkle S, Pretsch W: A glucosephosphate isomerase (GPI) null mutation in Mus musculus: Evidence that anaerobic glycolysis is the predominant energy delivering pathway in early post-implantation embryos. Comp Biochem Physiol 101B:309, 1992
3. McMorris FA, Chen TR, Ricciuti F, Tischfield J, Creagan R, Ruddle FH: Chromosome assignments in man of genes for two hexosephosphate isomerases. Science 179:1129, 1973
4. Walker JIH, Faik P, Morgan MJ: Characterization of the 5′ end of the gene for human glucose phosphate isomerase (GPI). Genomics 7:638, 1990
5. Walker JIH, Morgan MJ, Faik P: Structure and organization of the human glucose phosphate isomerase gene (GPI). Genomics 29:261, 1995
6. Xu W, Lee P, Beutler E: Human glucose phosphate isomerase: Exon mapping and gene structure. Genomics 29:732, 1995
7. Carter ND, Yoshida A: Purification and characterization of human phosphoglucose isomerase. Biochim Biophys Acta 181:12, 1969
8. Tsuboi KT, Fukunaga K, Chervenka CH: Phosphoglucose isomerase from human erythrocyte. J Biol Chem 246:7586, 1971
9. Tilley BE, Gracy RW, Welch SG: A point mutation increasing the stability of human phosphoglucose isomerase. J Biol Chem 249:4571, 1974
10. Sun AQ, Yuksel KU, Jacobson TM, Gracy RW: Isolation and characterization of human glucose-6-phosphate isomerase isoforms containing two different size subunits. Arch Biochem Biophys 283:120, 1990
11. Blackburn MN, Chirgwin JM, James GT, Kempe TD, Parsons TF, Register AM, Schnackerz KD, Noltmann EA: Pseudoisoenzymes of rabbit muscle phosphoglucose isomerase. J Biol Chem 247:1171, 1972
12. Baumann M, Brand K: Purification and characterization of phosphohexose isomerase from human gastrointestinal carcinoma and its potential relationship to neuroleukin. Cancer Res 48:7018, 1988
13. Cini JK, Cook PF, Gracy RW: Molecular basis for the isozymes of bovine glucose-6-phosphate isomerase. Arch Biochem Biophys 263:96, 1988
14. Gurney ME, Heinrich SP, Lee MR, Yin H-S: Molecular cloning and expression of neuroleukin, a neurotrophic factor for spinal and sensory neurons. Science 234:566, 1986
15. Chaput M, Claes V, Portetelle D Cludts I, Cravador A, Burny A, Gras H, Tartar A: The neurotrophic factor neuroleukin is 90% homologous with phosphohexose isomerase. Nature 332:454, 1988
16. Faik P, Walker JIH, Redmill AAM, Morgan MJ: Mouse glucose-6-phosphate isomerase and neuroleukin have identical 3′ sequences. Nature 332:455, 1988
17. Achari A, Marshall SE, Muirhead H, Palmier RH, Noltman EA: Glucose 6-phosphate isomerase. Philos Trans R Soc Lond Biol 293:145, 1981
18. Baughan MA, Valentine WN, Paglia DE, Ways PO, Simons ER, DeMarsh QB: Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency - A new enzyme defect of human erythrocytes. Blood 32:236, 1968
19. Valentine WN, Tanaka KR, Paglia DE: Pyruvate kinase and other enzyme deficiency disorders of the erythrocyte, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease (ed 6). New York, NY, McGraw-Hill, 1989, p 2341
20. Fujii H, Miwa S: Recent progress in the molecular genetic analysis of erythroenzymopathy. Am J Hematol 34:301, 1990
21. Tanaka KR, Paglia DE: Pyruvate kinase and other enzymopathies of the erythrocyte, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease (ed 7). New York, NY, McGraw-Hill, 1995, p 3485
22. Arya R, Layton DM, Bellingham AJ: Hereditary red cell enzymopathies. Blood Rev 9:165, 1995
23. Satoh C, Neel JV, Yamashita A, Goriki K, Fujita M, Hamilton HB: The frequency among Japanese of heterozygotes for deficiency variants of 11 enzymes. Am J Hum Genet 35:656, 1983
24. Ravindranath Y, Paglia DE, Warrier I, Valentine W, Nakatani M, Brockway RA: Glucose phosphate isomerase deficiency as a cause of hydrops fetalis. N Engl J Med 316:258, 1987
25. Paglia DE, Valentine WN: Hereditary glucosephosphate isomerase deficiency - A review. Am J Clin Path 62:740, 1974
26. Miwa S, Nakashima K, Oda S, Oda E, Matsumoto N, Ogawa H, Fukumoto Y: Glucosephosphate isomerase (GPI) deficiency hereditary hemolytic anemia. Report of the first case found in Japanese. Acta Haematol Jpn 36:65, 1973
27. Nakashima K, Miwa S, Oda S, Oda E, Matsumoto N, Fukumoto Y, Yamada T: Electrophoretic and kinetic studies of glucosephosphate isomerase (GPI) in two different Japanese families with GPI deficiency. Am J Hum Genet 25:294, 1973
28. Miwa S, Nakashima K, Oda S, Matsumoto N, Ogata H, Kobayashi R, Kotani M, Harata A, Onaya T, Yamada T: Glucosephosphate isomerase (GPI) deficiency hereditary nonspherocytic hemolytic anemia. Report of the second case found in Japanese. Acta Haematol Jpn 36:70, 1973
29. Takegawa S, Fujii H, Miwa S, Ohba Y, Yamauchi H, Miyata H: A case of congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency-GPI 'Kinki.' Acta Haematol Jpn 46:11, 1983
30. Beutler E, Blume KG, Kaplan JC, Löhr GW, Ramot B, Valentine WN: International Committee for Standardization in Haematology: Recommended methods for red cell enzyme analysis. Br J Haematol 35:331, 1977
31. Minakami S, Suzuki C, Saito T, Yoshikawa H: Studies on erythrocyte glycolysis. I. Determinations of the glycolytic intermediates in human erythrocytes. J Biochem 58:543, 1965
32. Beutler E, West C, Blume KG: The removal of leukocytes and platelets from whole blood. J Lab Clin Med 88:328, 1976
33. Chirgwin JJ, Przbyla AE, MacDonald RJ, Rutter WJ: Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 18:5294, 1979
34. Sambrook J, Fritsch EF, Maniatis T (eds): Molecular Cloning: A Laboratory Manual (ed 2). Cold Spring Harbor, NY, Cold Spring Harbor Laboratory, 1989
35. Walker JIH, Layton DM, Bellingham AJ, Morgan MJ, Faik P: DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency. Hum Mol Genet 2:327, 1993
36. Xu W, Beutler E: The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia. J Clin Invest 94:2326, 1994
37. Tekamp-Olson P, Najarian R, Burke RL: The isolation, characterization and nucleotide sequence of the phosphoglucoisomerase gene of Saccharomyces cerevisiae. Gene 73:153, 1988
38. Miwa S, Nishina T: Studies on pyruvate kinase (PK) deficiency. I. Clinical, hematological and erythrocyte enzyme studies. Acta Haematol Jpn 37:1, 1974
39. Miwa S, Nakashima K, Ariyoshi K, Shinohara K, Oda E, Tanaka T: Four new pyruvate kinase (PK) variants and a classical PK deficiency. Br J Haematol 29:157, 1975
40. Nakajima H, Kono N, Yamasaki T, Hotta K, Kawachi M, Kuwajima M, Noguchi T, Tanaka T, Tarui S: Genetic defect in muscle phosphofructokinase deficiency. J Biol Chem 265:9392, 1990
41. Vora S: Isozymes of phosphofructokinase: Biochemical and genetic aspects, in Rattazzi MC, Scandallos JG, Whitt GS (ed): Current Topics in Biological and Medical Research. New York, NY, Liss, 1983, p 3
42. Fujii H, Kanno H, Miwa S: Identification of glucosephosphate isomerase gene mutations in two Japanese families associated with hereditary hemolytic anemia. Blood 84:544a, 1994 (abstr, suppl I)
43. Baronciani L, Zanella A, Bianchi P, Alfinito F, Iolascon A, Tannoia N, Beutler E, Sirchia G: Study of molecular defects in glucose phosphate isomerase (GPI) deficient patients affected by chronic hemolytic anemia. Blood 86:134a, 1995 (abstr, suppl 1)