Dysregulation of transcriptions in primary granule constituents during myeloid proliferation and differentiation in patients with severe congenital neutropenia

Journal of Leukocyte Biology

Volumn 73, Issue 2, 2003, Pages 225-234

  Kawaguchi, Hiroshi ^c   Kobayashi, Masao ^b   Nakamura, Kazuhiro ^c   Konishi, Nakao ^c   Miyagawa, Shin ichiro ^c   Sato, Takashi ^c   Toyoda, Hidemi ^c   Komada, Yoshihiro ^a   Kojima, Seiji ^c   Todoroki, Yukiko ^c   Ueda, Kazuhiro ^c   Katoh, Osamu ^c  

^a MIE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b HIROSHIMA UNIVERSITY   (Japan)

^c NONE

Author keywords

G CSF; G CSF receptor; Myelopoiesis; Neutrophil elastase gene

Indexed keywords

CD34 ANTIGEN; GRANULOCYTE COLONY STIMULATING FACTOR; GRANULOCYTE COLONY STIMULATING FACTOR RECEPTOR; LACTOFERRIN; LEUKOCYTE ELASTASE; MESSENGER RNA;

ARTICLE; BONE MARROW CELL; CASE REPORT; CELL DIFFERENTIATION; CELL PROLIFERATION; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; DOWN REGULATION; FEMALE; GENE EXPRESSION; GENE MUTATION; GRANULE CELL; HUMAN; HUMAN CELL; INFANT; MALE; NEUTROPENIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; STEM CELL; TRANSCRIPTION REGULATION;

BONE MARROW CELLS; CELL DIFFERENTIATION; CELL DIVISION; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION REGULATION; HUMANS; LEUKOCYTE ELASTASE; MALE; NEUTROPENIA; PEROXIDASE; POLYMERASE CHAIN REACTION; RECEPTORS, GRANULOCYTE COLONY-STIMULATING FACTOR; TRANSCRIPTION, GENETIC;

EID: 0037310254     PISSN: 07415400     EISSN: None     Source Type: Journal    
DOI: 10.1189/jlb.0902427     Document Type: Article

References (60)

1. Kostmann, R. (1956) Infantile genetic agranulocytosis: a new recessive lethal disease in man. Acta Paediar. Scand. 45 (Suppl. 105), 1-78.
2. Kostmann, R. (1975) Infantile genetic agranulocytosis: a review with presentation of ten new cases. Acta Paediatr. Scand. 64, 362-368.
3. Welte, K., Dale, D. (1996) Pathophysiology and treatment of severe chronic neutropenia. Ann. Hematol. 72, 158-165.
4. Welte, K., Boxer, L. A. (1997) Severe chronic neutropenia: pathophysiology and therapy. Semin. Hematol. 34, 267-278.
5. Glader, B. E., Guinan, E., Lipton, J. M., Boxer, L. A. (1998) American Society of Hematology Education Program Book, Washington, D.C., American Society of Hematology, 384-403.
6. Bonilla, M. A., Gillio, A. P., Ruggeiro, M., Keman, M. A., Brochstein, J. A., Abbound, M., Fumagalli, L., Vincent, M., Gabrilove, J. L., Welte, K., Souza, L. M., O'Reilly, R. J. (1989) Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. N. Engl. J. Med. 320, 1574-1580.
7. Welte, K., Zeidler, C., Reiter, A., Muller, W., Odenwald, E., Souza, L., Riehm, H. (1990) Differential effects of granulocyte-macrophage colony-stimulating factor and granulocyte colony-stimulating factor in children with severe congenital neutropenia. Blood 75, 1056-1063.
8. Imashuku, S., Tsuchida, M., Sasaki, M., Shinlokawa, T., Nakamura, H., Matsuyama, T., Taniguchi, N., Oda, M., Higuchi, S., Ishimoto, K., Kobayashi, M., Ueda, K., Tsukimoto, I., Hanawa, Y. (1992) Recombinant human granulocyte colony stimulating factor in the treatment of patients with chronic benign neutropenia and congenital agranulocytosis (Kostmann's syndrome). Acta Paediatr. 81, 133-136.
9. Jones, E. A., Bolyard, A. A., Dale, D. C. (1993) Quality of life of patients with severe chronic neutropenia receiving long-term treatment with granulocyte colony-stimulating factor. JAMA 270, 1132-1133.
10. Dale, D. C., Bonilla, M. A., Davis, M. W., Nakanishi, A. M., Hammond, W. P., Kurtzberg, J., Wang, W., Jakubowski, A., Winton, E., Lalezari, P. (1993) A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia. Blood 81, 2496-2502.
11. Bonilla, M. A., Dale, D., Zeidler, C., Last, L., Reitel, A., Ruggerio, M., Davis, M., Koci, B., Hammond, W., Gillio, A., Welte, K. (1994) Long-term safety of treatment with recombinant human granulocyte colony-stimulating factor (r-metHuG-CSF) in patients with severe congenital neutropenias. Br. J. Haematol. 88, 723-730.
12. Welte, K., Gabrilove, J., Bronchud, M. H., Platzer, E., Morstyn, G. (1996) Filgrastim (r-metHuG-CSF): the first 10 years. Blood 88, 1907-1929.
13. Freedman, M. H. (1997) Safety of long-term administration of granulocyte colony-stimulating factor for severe chronic neutropenia. Curr. Opin. Hematol. 4, 217-224.
14. Demetri, G. D., Griffin, J. D. (1991) Granulocyte colony-stimulating factor and its receptor. Blood 78, 2791-2808.
15. Metcalf, D. (1991) Control of granulocytes and macrophages; molecular cellular and clinical aspects. Science 254, 529-533.
16. Metcalf, D. (1993) Hematopoietic regulators: redundancy or subtlety? Blood 82, 3515-3523.
17. Avalos, B. R. (1996) Molecular analysis of the granulocyte colony-stimulating factor receptor. Blood 88, 761-777.
18. Liu, F., Wu, H. Y., Wesselschmidt, R., Komaga, T., Link, D. C. (1996) Impaired production and increased apoptosis of neutrophils in granulocyte colony-stimulating factor-receptor deficient mice. Immunity 5, 491-501.
19. Pietsch, T., Buhrer, C., Mempel, K., Menzel, T., Steffens, U., Schrader, C., Santos, F., Zeidler, C., Welte, K. (1991) Blood mononuclear cells from patients with severe congenital neutropenia are capable of producing granulocyte colony-stimulating factor. Blood 77, 1234-1237.
20. Mempel, K., Pietsch, T., Menzel, T., Zeidler, C., Welte, K. (1991) Increased serum levels of granulocyte colony-stimulating factor in patients with severe congenital neutropenia. Blood 77, 1919-1922.
21. Kyas, U., Pietsch, T., Welte, K. (1992) Expression of receptors for granulocyte colony-stimulating factor on neutrophils from patients with severe congenital neutropenia and cyclic neutropenia. Blood 79, 1144-1147.
22. Guba, S. C., Sartor, C. A., Hutchingson, R., Boxer, L. A., Emerson, S. G. (1994) Granulocyte colony-stimulating factor (G-CSF) production and G-CSF receptor structure in patients with congenital neutropenia Blood 83, 1486-1492.
23. Kobayashi, M., Ueda, K., Kojima, S., Nishihira, H., Ishiguro, A., Shimbo, T., Nakahata, T. (1999) Granulocyte colony stimulating factor (G-CSF) production and G-CSF receptor expression in patients with severe congenital neutropenia. Br. J. Haematol. 105, 486-490.
24. Sandoval, C., Parganas, E., Wang, W., Ihle, J. N., Adams-Graves, P. (1995) Lack of alterations in the cytoplasmic domains of the granulocyte colony-stimulating factor receptors in eight cases of severe congenital neutropenia. Blood 85, 852-853.
25. Dong, F., Hoefsloot, L. H., Schelen, A. M., Broeders, C. A., Meijer, Y., Veerman, A. J., Touw, I. P., Lowenberg, B. (1994) Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia. Proc. Natl. Acad. Sci. USA 91, 4480-4484.
26. Dong, F., Dale, D. C., Bonilla, M. A., Freedman, M., Fasth, A., Neijens, H. J., Palmblad, J., Briars, G. L., Carlsson, G., Veerman, A. J., Welte, K., Lowenberg, B., Touw, I. P. (1997) Mutations in the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia. Leukemia 11, 120-125.
27. Hermans, M. H., Ward, A. C., Antonissen, C., Karis, A., Löwenberg, B., Touw, I. P. (1998) Perturbed granulopoiesis in mice with a targeted mutation in the granulocyte colony-stimulating factor receptor gene associated with severe chronic neutropenia. Blood 92, 32-39.
28. McLemore, M. L., Poursine-Laurent, J., Link, D. C. (1998) Increased granulocyte colony-stimulating factor responsiveness but normal resting granulopoiesis in mice carrying a targeted granulocyte colony-stimulating factor receptor mutation derived from a patient with severe congenital neutropenia. J. Clin. Invest. 102, 483-492.
29. Kawaguchi, Y., Kobayashi, M., Tanabe, A., Hara, M., Nishi, Y., Usui, T., Nagai, S., Nishibayashi, Y., Nagao, K., Yokoro, K. (1985) Granulopoiesis in patients with congenital neutropenia. Am. J. Hematol. 20, 223-234.
30. Kobayashi, M., Yumiba, C., Kawaguchi, Y., Tanaka, Y., Ueda, K., Komazawa, Y., Okada, K. (1990) Abnormal responses of myeloid progenitor cells to recombinant human colony-stimulating factors in congenital neutropenia. Blood 75, 2143-2149.
31. Hestdal, K., Welte, K., Lie, S. O., Keller, J. R., Ruscetti, F. W., Abrahamsen, T. G. (1993) Severe congenital neutropenia: abnormal growth and differentiation of myeloid progenitors to granulocyte colony-stimulating factor (G-CSF) but normal response to G-CSF plus stem cell factor. Blood 82, 2991-2997.
32. Konishi, N., Kobayashi, M., Miyagawa, S., Sato, T., Katoh, O., Ueda, K. (1999) Defective proliferation of primitive myeloid progenitor cells in patients with severe congenital neutropenia. Blood 94, 4077-4083.
33. Nakamura, K., Kobayashi, M., Konishi, N., Kawaguchi, H., Miyagawa, S., Sato, T., Toyoda, H., Komada, Y., Kojima, S., Katoh, O., Ueda, K. (2000) Abnormalities of primitive myeloid progenitor cells expressing granulocyte colony-stimulating factor receptor in patients with severe congenital neutropenia. Blood 96, 4366-4369.
34. Horwitz, M., Benson, K. F., Person, R. E., Aprikyan, A. G., Dale, D. C. (1999) Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat. Genet. 23, 433-436.
35. Dale, D. C., Person, R. E., Bolyard, A. A., Aprikyan, A. G., Bos, C., Bonilla, M. A., Boxer, L. A., Kannourakis, G., Zeidler, C., Welte, K., Benson, K. F., Horwitz, M. (2000) Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 96, 2317-2322.
36. Ancliff, P. J., Gale, R. E., Liesner, R., Hann, I. M., Linch, D. C. (2001) Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. Blood 98, 2645-2650.
37. Germeshausen, M., Schulze, H., Ballmaier, M., Zeidler, C., Welte, K. (2001) Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia. Br. J. Haematol. 115, 222-224.
38. Li, F. Q., Horwitz, M. (2001) Characterization of mutant neutrophil elastase in severe congenital neutropenia. J. Biol. Chem. 276, 14230-14241.
39. Borregaard, N., Cowland, J. B. (1997) Granules of the human neutrophilic polymorphonuclear leukocyte. Blood 89, 3503-3521.
40. Berliner, N. (1998) Molecular biology of neutrophil differentiation. Curr. Opin. Hematol. 5, 49-53.
41. Cowland, J. B., Borregaard, N. (1999) The individual regulation of granule protein mRNA levels during neutrophil maturation explains the heterogeneity of neutrophil granules. J. Leukoc. Biol. 66, 989-995.
42. Borregaard, N., Theilgaard-Mönch, K., Sorensen, O. E., Cowland, J. B. (2001) Regulation of human neutrophil granule protein expression. Curr. Opin. Hematol. 8, 23-27.
43. Takahashi, H., Nukiwa, T., Basset, P., Crystal, R. G. (1988) Myelomonocytic cell lineage expression of the neutrophil elastase gene. J. Biol. Chem. 263, 2543-2547.
44. Fouret, P., du Bois, R. M., Bernaudin, J. F., Takahashi, H., Ferrans, V. J., Crystal, R. G. (1989) Expression of the neutrophil elastase gene during human bone marrow cell differentiation. J. Exp. Med. 169, 833-845.
45. Zimmer, M., Medcalf, R. L., Fink, T. M., Mattmann, C., Lichter, P., Jenne, D. E. (1992) Three human elastase-like genes coordinately expressed in the myelomonocyte lineage are organized as a single genetic locus on 19pter. Proc. Natl. Acad. Sci. USA 89, 8215-8219.
46. Bories, D., Raynal, M. C., Solomon, D. H., Darzynkiewicz, Z., Cayre, Y. E. (1989) Down-regulation of a serine protease, myeloblastin, causes growth arrest and differentiation of promyelocytic leukemia cells. Cell 59, 959-968.
47. Kobayashi, M., Laver, J. H., Kato, T., Miyazaki, H., Ogawa, M. (1996) Thrombopoietin supports proliferation of human primitive hematopoietic cells in synergy with steel factor and/or interleukin-3. Blood 88, 429-436.
48. Kobayashi, M., Laver, J. H., Kato, T., Miyazaki, H., Ogawa, M. (1997) Thrombopoietin steel factor and the ligand for fit3/fik2 interact to stimulate the proliferation of human hematopoietic progenitors in culture. Int. J. Hematol. 66, 423-434.
49. Sonoda, Y., Ogawa, M. (1988) Serum-free culture of human hemopoietic progenitors in attenuated cuture media. Am. J. Hematol. 28, 227-231.
50. Katoh, O., Takahashi, T., Oguri, T., Kuramoto, K., Mihara, K., Kobayashi, M., Hirata, S., Watanabe, H. (1998) Vascular endothelial growth factor inhibits apoptotic death in hematopoietic cells after exposure to chemotherapeutic drugs by inducing MCL1 acting as an anti-apoptotic factor. Cancer Res. 58, 5565-5569.
51. Kuramoto, K., Uesaka, T., Kimura, A., Kobayashi, M., Watanabe, H., Katoh, O. (2000) ZK7, a novel zinc finger gene, is induced by vascular endothelial growth factor and inhibits apoptotic death in hematopoietic cells. Cancer Res. 60, 425-430.
52. Andrews, R. G., Torok-Storb, B., Bernstein, I. D. (1983) Myeloid-associated differentiation antigens on stem cells and their progeny identified by monoclonal antibodies. Blood 62, 124-132.
53. Andrews, R. G., Singer, J. W., Bernstein, I. D. (1989) Precursors of colony-forming cells in humans can be distinguished from colony-forming cells by expression of the CD33 and CD34 antigens and light scatter properties. J. Exp. Med. 169, 1721-1731.
54. Germeshausen, M., Schulze, H., Ballmaier, M., Zeidler, C., Welte, K. (2001) Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia. Br. J. Haematol. 115, 222-224.
55. Lutz, P. G., Moog-Lutz, C., Coumau-Gatbois, E., Kobari, L., Di Gioia, Y., Cayre, Y. E. (2000) Myeloblastin is a granulocyte colony-stimulating factor-responsive gene conferring factor-independent growth to hematopoietic cells. Proc. Natl. Acad. Sci. USA 97, 1601-1606.
56. Edmond, T., Wong, L., Jenne, D. E., Zimmer, M., Porter, S. D., Gilks, C. B. (1999) Changes in chromatin organization at the neutrophil elastase locus associated with myeloid cell differentiation. Blood 94, 3730-3736.
57. Parmley, R. T., Crist, W. M., Ragab, A. H., Boxer, L. A., Malluh, A., Lui, V. K., Darby, C. P. (1980) Congenital dysgranulopoietic neutropenia: clinical, serologie, ultrastructural, and in vitro proliferative characteristics. Blood 56, 465-475.
58. Belaaouaj, A., McCarthy, R., Baumann, M., Gao, Z., Ley, T. J., Abraham, S. N., Shapiro, S. D. (1998) Mice lacking neutrophil elastase reveal impaired host defense against gram negative bacterial sepsis. Nat. Med. 4, 615-618.
59. Tkalcevic, J., Novelli, M., Phylactides, M., Iredale, J. P., Segal, A. W., Roes, J. (2000) Impaired immunity and enhanced resistance to endotoxin in the absence of neutrophil elastase and cathepsin G. Immunity 12, 201-210.
60. Seto, Y., Fukunaga, R., Nagata, S. (1992) Chromosomal gene organization of the human granulocyte colony-stimulating factor receptor. J. Immunol. 148, 259-266.