Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C/EBPε gene

Blood

Volumn 109, Issue 10, 2007, Pages 4181-4190

  Khanna Gupta, Arati ^a   Sun, Hong ^a   Zibello, Theresa ^a   Han, Myung Lee ^a   Dahl, Richard ^b   Boxer, Laurence A ^c   Berliner, Nancy ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF NEW MEXICO   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CCAAT ENHANCER BINDING PROTEIN; CCAAT ENHANCER BINDING PROTEIN EPSILON; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GROWTH FACTOR INDEPENDENCE 1; UNCLASSIFIED DRUG;

ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; GENE EXPRESSION; GENE INACTIVATION; GENE MUTATION; GENE REPRESSION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; MALE; MOUSE; NEUTROPHIL; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; SPECIFIC GRANULE DEFICIENCY;

EID: 34248350431     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2005-05-022004     Document Type: Article

References (43)

1. Bellantuono I. Haemopoietic stem cells. Intl J Biochem Cell Biol. 2004;36:607-620.
2. Berliner N. Molecular biology of neutrophil differentiation. Curr Opin Hematol. 1998;5:49-53.
3. Borregaard N, Theilgaard-Monch K, Sorensen O, Cowland J. Regulation of human neutrophil granule protein expression. Curr Opin Hematol. 2001;8:23-27.
4. Borregaard N, Sehested M, Nielsen BS, Sengelov H, Kjeldsen L. Biosynthesis of granule proteins in normal human bone marrow cells: gelatinase is a marker of terminal neutrophil differentiation. Blood. 1995;85:812-817.
5. Rosmarin A, Yang Z, Resendes K. Transcriptional regulation in myelopoiesis: hematopoietic fate choice, myeloid differentiation, and leukemogenesis. Expt Hematol. 2005;33:131-143.
6. Shivdasani RA, Orkin SH. The transcriptional control of hematopoiesis. Blood. 1996;87:4025-4039.
7. Skalnik D. Transcriptional mechanisms regulating myeloid-specific genes. Gene. 2002;284:1-21.
8. Friedman A. Transcriptional regulation of granulocyte and monocyte development. Oncogene. 2002;21:3377-3390.
9. Boxer LA, Coates TD, Haak RA, Wolach JB, Hoffstein S, Baehner RL. Lactoferrin deficiency associated with altered granulocyte function. New Eng J Med. 1982;307:404-410.
10. Ambruso DR, Sasada M, Nishiyama A, Kubo A, Komiyama A, Allen RH. Defective bactericidal activity and absence of specific granules in neutrophils from a patient with recurrent bacterial infections. J Clin Immunol. 1984;4:23-30.
11. Lekstrom-Himes J, Xanthopoulos KG. CCAAT/enhancer binding protein epsilon is critical for effective neutrophil-mediated response to inflammatory challenge. Blood. 1999;93:3096-3105.
12. Gombart AF, Shiohara M, Kwok SH, Agematsu K, Komiyama A, Koeffler HP. Neutrophil specific granule deficiency: homozygous recessive inheritance of a frame shift mutation in the gene encoding transcription factor C/EBPε. Blood. 2001;97:2561-2567.
13. Lekstrom-Himes J, Xanthopoulos KG. Biological role of CCAAT/enhancer-binding protein family of transcription factors. J Biol Chem. 1998;273:28545-28548.
14. Yamanaka R, Barlow C, Lekstrom-Himes J, et al. Impaired granulopoiesis, myelodysplasia, and early lethality in CCAAT/enhancer binding protein epsilon-deficient mice. Proc Natl Acad Sci U S A. 1997;94:13187-13192.
15. Johnston JJ, Boxer LA, Berliner N. Correlation of messenger RNAlevels with protein defects in specific granule deficiency. Blood. 1992;80:2088-2091.
16. Suchard S, Hinkovska-Galcheva V, Mansfield P, Boxer L, Shayman J. Ceramide inhibits IgG-dependent phagocytosis in human polymorphonuclear leukocytes. Blood. 1997;89:2139-2147.
17. Lekstrom-Himes JA, Dorman SE, Kopar P, Holland SM, Gallin JI. Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein ε. J Exp Med. 1999;189:1847-1852.
18. Khanna-Gupta A, Kolibaba K, Zibello TA, Berliner N. NB4 cells show bilineage potential and an aberrant pattern of neutrophil secondary granule protein gene expression. Blood. 1994;84:294-302.
19. Khanna-Gupta A, Zibello T, Sun H, Gaines P, Berliner N. Chromatin immunoprecipitation (ChIP) studies indicate a role for CCAAT enhamcer binding proteins alpha and epsilon (C/EBPα and C/EBPε) and CDP/cut in myeloid maturation induced lactoferrin gene expression. Blood. 2003;101:3460-3468.
20. Lawson ND, Krause DS, Berliner N. Normal neutrophil differentiation and secondary granule gene expression in the EML and MPRO cell lines. Exp Hematol. 1998;26:1178-1185.
21. Khanna-Gupta A, Zibello T, Kolla S, Neufeld EJ, Berliner N. CCAAT displacement protein (CDP/cut) recognizes a silencer element within the lactoferrin gene promoter. Blood. 1997;90:2784-2795.
22. Tsai S, Bartelmez S, Sitnicka E, Collins S. Lymphohematopoietic progenitors immortalized by a retroviral vector harboring a dominant-negative retinoic acid receptor can recapitulate lymphoid, myeloid, and erythroid development. Genes Dev. 1994;8:2831-2841.
23. Hock H, Hamblen M, Rooke H, et al. Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation. Immunity. 2003;18:109-120.
24. Tsai S, Collins SJ. A dominant negative retinoic acid receptor blocks neutrophil differentiation at the promyelocyte stage. Proc Natl Acad Sci U S A. 1993;90:7153-7157.
25. Khanna-Gupta A, Zibello T, Idone V, Sun H, Lekstrom-Himes J, Berliner N. Human neutrophil collagenase expression is C/EBP-dependent during myeloid development. Exp Hematol. 2005;33:42-52.
26. Lekstrom-Himes J. The role of C/EBPε in terminal stages of granulocyte differentiation. Stem Cells. 2001;19:125-133.
27. Miller M, Shuman J, Sebastian T, Dauter Z, Johnson P. Structural basis for DNA recognition by the basic region leucine zipper transcription factor CCAAT/enhancer-binding protein alpha. J Biol Chem. 2003;278:15178-15184.
28. Gombart A, Koeffler H. Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon). Curr Opin Hematol. 2002;9:36-42.
29. DeKoter RP, Singh H. Regulation of B-lymphocyte and macrophage development by graded expression of PU.1. Science. 2000;288:1439-1441.
30. Dahl R, Walsh JC, Lancki D, et al. Regulation of macrophage and neutrophil cell fates by the PU.1:C/EBPalpha ratio and granulocyte colony-stimulating factor. 2003;4:1029-1036.
31. Anderson K, Smith K, Perkin H, et al. PU.1 and the granulocyte- and macrophage colony-stimulating factor receptors play distinct roles in late-stage myeloid cell differentiation. Blood. 1999;94:2310-2318.
32. Anderson KL, Smith KA, Pio F, Torbett BE, Maki RA. Neutrophils deficient in PU.1 do not terminally differentiate or become functionally competent. Blood. 1998;92:1576-1585.
33. Laslo P, Spooner CJ, Warmflash A, et al. Multilineage transcriptional priming and determination of alternate hematopoietic cell fates. Cell. 2006;126:755-756.
34. Moroy T. The zinc finger transcription factor growth factor independence 1 (Gfi1). Intl J Biochem Cell Biol. 2005;37:541-546.
35. Duan Z, Horwitz M. Gfi-1 takes center stage in hematopoietic stem cells. Trends Mol Med. 2005;11:49-52.
36. Hock H, Orkin S. Zinc-finger transcription factor Gfi-1: versatile regulator of lymphocytes, neutrophils and hematopoietic stem cells. Curr Opin Hematol. 2006;13:1-6.
37. Dai XM, Ryan GR, Hapel AJ, et al. Targeted disruption of the mouse colony-stimulating factor 1 receptor gene results in osteopetrosis, mononuclear phagocyte deficiency, increased primitive progenitor cell frequencies and reproductive defects. Blood. 2002;99:111-120.
38. Zhang DE, Hetherington CJ, Meyers S, et al. CCAAT enhancer-binding protein (C/EBP) and AML1 (CBF alpha2) synergistically activate the macrophage colony-stimulating factor receptor promoter. Mol Cell Biol. 1996;16:1231-1240.
39. Jafar-Nejad H, Bellen H. Gfi/Pag-3/Senseless zinc finger proteins: a unifying theme? Mol Cell Biol. 2004;24:8803-8812.
40. Zhuang D, Qiu Y, Kogan S, Dong F. Increased CAAT enhancer binding protein epsilon (C/EBPe) expression and premature apoptosis in myeloid cells expressing Gfi-1 N382S mutant assoicated with severe conginital neutropenia. J Biol Chem. 2006;281:10745-10751.
41. Person R, Li F, Duan Z, et al. Mutations in proto-oncogene Gfi1 cause human neutropenia and target ELA2. Nat Genet. 2003;34:308-312.
42. Duan Z, Horwitz M. Targets of the transcriptional repressor oncoprotein Gfi-1. Proc Natl Acad Sci U S A. 2003;100:5932-5937.
43. Osawa M, Yamaguchi T, Nakamura Y, et al. Erythroid expansion mediated by the Gfi-1B zinc finger protein: role in normal hematopoiesis. Blood. 2002;100:2769-2777.