The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators

Blood

Volumn 95, Issue 10, 2000, Pages 3223-3231

  Centola, Michael ^a   Wood, Geryl ^b   Frucht, David M ^b   Galon, Jerome ^b   Aringer, Martin ^b   Farrell, Christopher ^b   Kingma, Douglas W ^b   Horwitz, Mitchell E ^b   Mansfield, Elizabeth ^b   Holland, Steven M ^b   O'Shea, John J ^b   Rosenberg, Helene F ^b   Malech, Harry L ^b   Kastner, Daniel L ^b  

^a NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

COLCHICINE; GAMMA INTERFERON; INTERLEUKIN 10; INTERLEUKIN 4; LIPOPOLYSACCHARIDE; TRANSFORMING GROWTH FACTOR BETA; TUMOR NECROSIS FACTOR;

ARTICLE; CELL DIFFERENTIATION; FAMILIAL MEDITERRANEAN FEVER; GENE EXPRESSION; GENE ISOLATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMEDIATE EARLY GENE; IMMUNOREGULATION; LEUKOCYTE ACTIVATION; NORMAL HUMAN; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; TISSUE SPECIFICITY;

EID: 0034658465     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v95.10.3223.010k26_3223_3231     Document Type: Article

References (82)

1. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997;90:797
2. The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17:25.
3. Kastner DL. Intermittent and periodic arthritic syndromes. In: Koopman WJ, ed. Arthritis and Allied Conditions. Baltimore, MD: Williams & Wilkins; 1996:1279-1306.
4. Samuels J, Aksentijevich I, Torosyan Y, et al. Familial Mediterranean fever at the millennium: clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Baltimore). 1998; 77:268.
5. Aksentijevich I, Samuels J, Centola M, et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet. 1999;64:949.
6. Booth DR, Gillmore JD, Booth SE, Pepys MB, Hawkins PN. Pyrin/marenostrin mutations in familial Mediterranean fever. Q J Med. 1998; 91:603.
7. Bernot A, da Silva C, Petit JL, et al. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet. 1998;7:1317.
8. Cazeneuve C, Sarkisian T, Pecheux C, et al. MEFV-gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet. 1999;65:88.
9. Centola M, Aksentijevich I, Kastner DL. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Hum Mol Genet. 1998;7:1581.
10. Henry J, Mather IH, McDermott MF, Pontarotti P. B30.2-like domain proteins: update and new insights into a rapidly expanding family of proteins. Mol Biol Evol. 1998;15:1696.
11. Borden KL. RING fingers and B-boxes: zinc-binding protein-protein interaction domains. Biochem Cell Biol. 1998;76:351.
12. Territo MC, Peters RS, Cline MJ. Leukocyte function in familial Mediterranean fever. Am J Hematol. 1976;1:307.
13. Bar-Eli M, Territo MC, Peters RS, Schwabe AD. A neutrophil lysozyme leak in patients with familial Mediterranean fever. Am J Hematol. 1981;11:387.
14. Holland SM, Gallin JI. Disorders of phagocytic cells. In: Gallin JI, Snyderman R, eds. Inflammation: Basic Principles and Clinical Correlates. 3rd ed. Philadelphia, PA: Lippincott Williams & Wilkins; 1999:895-914.
15. Berliner N. Molecular biology of neutrophil differentiation. Curr Opin Hematol. 1998;5:49.
16. Niikura T, Hirata R, Weil SC. A novel interferon-inducible gene expressed during myeloid differentiation. Blood Cells Mol Dis. 1997;23:337.
17. Yu M, Tong JH, Mao M, et al. Cloning of a gene (RIG-G) associated with retinoic acid-induced differentiation of acute promyelocytic leukemia cells and representing a new member of a family of interferon-stimulated genes. Proc Natl Acad Sci U S A. 1997;94:7406.
18. Mao M, Yu M, Tong JH, et al. RIG-E, a human homolog of the murine Ly-6 family, is induced by retinoic acid during the differentiation of acute promyelocytic leukemia cell. Proc Natl Acad Sci U S A. 1996;93:5910.
19. Johnston JJ, Rintels P, Chung J, Sather J, Benz EJJ, Berliner N. Lactoferrin gene promoter: structural integrity and nonexpression in HL60 cells. Blood. 1992;79:2998.
20. Hirata RK, Chen ST, Weil SC. Expression of granule protein mRNAs in acute promyelocytic leukemia. Hematol Pathol. 1993;7:225.
21. Weil WM, Linton GF, Whiting-Theobald N, et al. Genetic correction of p67phox deficient chronic granulomatous disease using peripheral blood progenitor cells as a target for retrovirus mediated gene transfer. Blood. 1997;89:1754.
22. Hasuike T, Hino M, Yamane T, Tatsumi N. In vitro expansion of mature neutrophils from isolated peripheral blood stem cells. Osaka City Med J. 1997;43:61.
23. 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.
24. 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.
25. Bavisotto L, Kaushansky K, Lin N, Hromas R. Antisense oligonucleotides from the stage-specific myeloid zinc finger gene MZF-1 inhibit granulopoiesis in vitro. J Exp Med. 1991;174:1097.
26. Zhang P, Iwama A, Datta MW, Darlington GJ, Link DC, Tenen DG. Upregulation of interleukin 6 and granulocyte colony-stimulating factor receptors by transcription factor CCAAT enhancer binding protein alpha (C/EBP alpha) is critical for granulopoiesis. J Exp Med. 1998;188:1173.
27. 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 epsilon. J Exp Med. 1999; 189:1847.
28. Eilers A, Baccarini M, Horn F, Hipskind RA, Schindler C, Decker T. A factor induced by differentiation signals in cells of the macrophage lineage binds to the gamma interferon activation site. Mol Cell Biol. 1994;14:1364.
29. Gouilleux-Gruart V, Gouilleux F, Desaint C, et al. STAT-related transcription factors are constitutively activated in peripheral blood cells from acute leukemia patients. Blood. 1996;87:1692.
30. Kao WY, Dworkin LL, Briggs JA, Briggs RC. Characterization of the human myeloid cell nuclear differentiation antigen gene promoter. Biochim Biophys Acta. 1996;1308:201.
31. Borellini F, Aquino A, Josephs SF, Glazer RI. Increased expression and DNA-binding activity of transcription factor Sp1 in doxorubicin-resistant HL-60 leukemia cells. Mol Cell Biol. 1990;10:5541.
32. Clarke S, Gordon S. Myeloid-specific gene expression. J Leukoc Biol. 1998;63:153.
33. Gasperini S, Marchi M, Calzetti F, et al. Gene expression and production of the monokine induced by IFN-gamma (MIG), IFN-inducible T cell alpha chemoattractant (I-TAC), and IFN-gamma-inducible protein-10 (IP-10) chemokines by human neutrophils. J Immunol. 1999;162:4928.
34. Huang J, Wang MD, Lenz S, Gao D, Kaltenboeck B. IL-12 administered during Chlamydia psittaci lung infection in mice confers immediate and long-term protection and reduces macrophage inflammatory protein-2 level and neutrophil infiltration in lung tissue. J Immunol. 1999;162:2217.
35. Kunkel SL. Th1- and Th2-type cytokines regulate chemokine expression. Biol Signals. 1996;5:197.
36. Kasama T, Strieter RM, Lukacs NW, Lincoln PM, Burdick MD, Kunkel SL. Interferon gamma modulates the expression of neutrophil-derived chemokines. J Investig Med. 1995;43:58.
37. Smith WB, Noack L, Khew-Goodall Y, Isenmann S, Vadas MA, Gamble JR. Transforming growth factor-beta 1 inhibits the production of IL-8 and the transmigration of neutrophils through activated endothelium. J Immunol. 1996;157:360.
38. Colligan JE, Kruisbeek AM, Margulies DH, Shevach EM, Strober W. Current Protocols in Immunology. New York, NY: John Wiley & Sons; 1999.
39. Domachowske JB. Dyer KD, Bonville CA, Rosenberg HF. Recombinant human eosinophil-derived neurotoxin/RNase 2 functions as an effective antiviral agent against respiratory syncytial virus. J Infect Dis. 1998;177:1458.
40. Czerniecki BJ, Carter C, Rivoltini L, et al. Calcium ionophore-treated peripheral blood monocytes and dendritic cells rapidly display characteristics of activated dendritic cells. J Immunol. 1997; 159:3823.
41. Miltenyi S, Muller W, Weichel W, Radbruch A. High gradient magnetic cell separation with MACS. Cytometry. 1990;11:231.
42. Yam LT, Li CY, Crosby WH. Cytochemical identification of monocytes and granulocytes. Am J Clin Pathol. 1971;55:283.
43. Breitman TR, Selonick SE, Collins SJ. Induction of differentiation of the human promyelocytic leukemia cell line (HL-60) by retinoic acid. Proc Natl Acad Sci USA. 1980;77:2936.
44. Rovera G, Santoli D, Damsky C. Human promyelocytic leukemia cells in culture differentiate into macrophage-like cells when treated with a phorbol diester. Proc Natl Acad Sci U S A. 1979; 76:2779.
45. Fischkoff SA, Pollak A, Gleich GJ, Testa JR, Misawa S, Reber TJ. Eosinophilic differentiation of the human promyelocytic leukemia cell line, HL-60. J Exp Med. 1984;160:179.
46. Kingma DW, Medeiros LJ, Barletta J, et al. Epstein-Barr virus is infrequently identified in non-Hodgkin's lymphomas associated with Hodgkin's disease. Am J Surg Pathol. 1994;18:48.
47. Quandt K, Frech K, Karas H, Wingender E, Werner T. MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res. 1995;23:4878.
48. Klemsz MJ, McKercher SR, Celada A, Van Beveren C, Maki RA. The macrophage and B cell-specific transcription factor PU .1 is related to the ets oncogene. Cell. 1990;61:113.
49. Bainton DF, Ullyot JL, Farquhar MG. The development of neutrophilic polymorphonuclear leukocytes in human bone marrow. J Exp Med. 1971; 134:907.
50. Lumb G, Protheroe RHB. Biopsy of the rectum in ulcerative colitis. Lancet. 1955;2:1208.
51. Brenner-Ullman A, Melzer-Ofir H, Daniels M, Shohat M. Possible protection against asthma in heterozygotes for familial Mediterranean lever Am J Med Genet. 1994;53:172.
52. Konca K, Erken E, Ydrysoglu S. Increased serum eosinophil cationic protein levels in familial Mediterranean fever [letter]. J Rheumatol. 1998; 25:1865.
53. Heller H, Gafni J, Michaeli D, et al. The arthritis of familial Mediterranean fever (FMF). Arthritis Rheum. 1966;9:1.
54. Bar-Eli M, Gallily R, Levy M, Eliakim M. Monocyte function in familial Mediterranean fever. Am J Med Sci. 1977;274:265.
55. Courillon-Mallet A, Bevilacqua M, Wautier JL, Dervichian M, Cattan D, Caen J. Increased procoagulant response of monocytes from patients with familial Mediterranean fever. Thromb Haemost. 1986;56:211.
56. Mege JL, Dilsen N, Sanguedolce V, et al. Over-production of monocyte derived tumor necrosis factor alpha, interleukin (IL) 6. IL-8 and increased neutrophil superoxide generation in Behçet's disease. A comparative study with familial Mediterranean fever and healthy subjects. J Rheumatol. 1993;20:1544.
57. Pillinger MH, Abramson SB. The neutrophil in rheumatoid arthritis. Rheum Dis Clin North Am. 1995;21:691.
58. Nathan CF. Secretory products of macrophages. J Clin Invest. 1987;79:319.
59. Der SD, Zhou A, Williams BR, Silverman RH. Identification of genes differentially regulated by interferon alpha, beta, or gamma using oligonucleotide arrays. Proc Natl Acad Sci U S A. 1998;95:15,623.
60. Shuai K, Schindler C, Prezioso VR, Darnell JEJ. Activation of transcription by IFN-gamma: tyrosine phosphorylation of a 91-kD DNA binding protein. Science. 1992;258:1808.
61. Muller JM, Ziegler-Heitbrock HW, Baeuerle PA. Nuclear factor kappa B, a mediator of lipopolysaccharide effects. Immunobiology. 1993; 187:233.
62. Griffin GE, Leung K, Folks TM, Kunkel S, Nabel GJ. Induction of NF-kappa B during monocyte differentiation is associated with activation of HIV-gene expression. Res Virol. 1991;142:233.
63. Khan KD, Shuai K, Lindwall G, Maher SE, Darnell JEJ, Bothwell AL. Induction of the Ly-6A/E gene by interferon alpha/beta and gamma requires a DNA element to which a tyrosine-phosphorylated 91-kDa protein binds. Proc Natl Acad Sci U S A. 1993;90:6806.
64. Chen EH, Gadina M, Galon J, Chen M, O'Shea JJ. Not just another meeting: the coming of age of JAKs and STATs. Immunol Today. 1998;19:338.
65. Bogdan C, Nathan C. Modulation of macrophage function by transforming growth factor beta, interleukin-4, and interleukin-10. Ann N Y Acad Sci. 1993;685:713.
66. Kumaratilake LM, Ferrante A. IL-4 inhibits macrophage-mediated killing of Plasmodium falciparum in vitro: a possible parasite-immune evasion mechanism. J Immunol. 1992;149:194.
67. Banu N, Meyers CM. TGF-beta1 down-regulates induced expression of both class II MHC and B7-1 on primary murine renal tubular epithelial cells. Kidney Int. 1999;56:985.
68. Paludan SR, Ellermann-Eriksen S, Lovmand J, Mogensen SC. Interleukin-4-rriediated inhibition of nitric oxide production in interferon-gamma-treated and virus-infected macrophages. Scand J Immunol. 1999;49:169.
69. Ohmori Y, Hamilton TA. IL-4-induced STAT6 suppresses IFN-gamma-stimulated STAT1-dependent transcription in mouse macrophages. J Immunol. 1997;159:5474.
70. Shiozawa S, Morimoto I, Tanaka Y, Shiozawa K. A preliminary study on the interferon-alpha treatment for xerostomia of Sjogren's syndrome. Br J Rheumatol. 1993;32:52.
71. Knobler RL, Panitch HS, Braheny SL, et al. Systemic alpha-interferon therapy of multiple sclerosis. Neurology. 1984;34:1273.
72. Georgiou S, Monastirli A, Pasmatzi E, Gartaganis S, Goerz G, Tsambaos D. Efficacy and safety of systemic recombinant interferon-alpha in Behçet's disease. J Intern Med. 1998;243:367.
73. Vial T, Descotes J. Immune-mediated side-effects of cytokines in humans. Toxicology. 1995;105:31.
74. Wandl UB, Nagel-Hiemke M, May D, et al. Lupus-like autoimmune disease induced by interferon therapy for myeloproliferative disorders. Clin Immunol Immunopathol. 1992;65:70.
75. Tunca M, Tankurt E, Akbaylar Akpinar H, Akar S, Hizli N, Gonen O. The efficacy of interferon alpha on colchicine-resistant familial Mediterranean fever attacks: a pilot study. Br J Rheumatol. 1997; 36:1005.
76. Matsumura N, Mizushima Y. Leucocyte movement and colchicine treatment in Behçet's disease [letter]. Lancet. 1975;2:813.
77. Asako H, Kubes P, Baethge BA, Wolf RE, Granger DN. Colchicine and methotrexate reduce leukocyte adherence and emigration in rat mesenteric venules. Inflammation. 1992;16:45.
78. Matsukawa A, Yoshimura T, Maeda T, Takahashi T, Ohkawara S, Yoshinaga M. Analysis of the cytokine network among tumor necrosis factor alpha, interleukin-1 beta, interleukin-8, and interleukin-1 receptor antagonist in monosodium urate crystal-induced rabbit arthritis. Lab Invest. 1998; 78:559.
79. Dinarello CA, Chusid MJ, Fauci AS, Gallin JI, Dale DC, Wolff SM. Effect of prophylactic colchicine therapy on leukocyte function in patients with familial Mediterranean fever. Arthritis Rheum. 1976;19:618.
80. Shonat M, Korenberg JR, Schwabe AD, Rotter JI. Hypothesis: familial Mediterranean fever - a genetic disorder of the lipocortin family? Am J Med Genet. 1989;34:163.
81. Schattner A, Gurevitz A, Zemer D, Hahn T. Induced TNF production in vitro as a test for familial Mediterranean fever. Q J Med. 1996;89: 205.
82. Ayesh SK, Azar Y, Babior BM, Matzner Y. Inactivation of interleukin-8 by the C5a-inactivating protease from serosal fluid. Blood. 1993;81:1424.