Deletion of a critical internalization domain in the G-CSFR in acute myelogenous leukemia preceded by severe congenital neutropenia

Blood

Volumn 93, Issue 2, 1999, Pages 440-446

  Hunter, Melissa G ^a   Avalos, Belinda R ^a,b  

^a OHIO STATE UNIVERSITY   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLONY STIMULATING FACTOR RECEPTOR; GRANULOCYTE COLONY STIMULATING FACTOR;

ACUTE GRANULOCYTIC LEUKEMIA; ANIMAL CELL; ARTICLE; DISEASE ASSOCIATION; GENE DELETION; GENETIC LINKAGE; INTERNALIZATION; LEUKEMOGENESIS; NEUTROPENIA; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR DOWN REGULATION;

EID: 0033555810     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v93.2.440.402k23_440_446     Document Type: Article

References (41)

1. Avalos BR: The granulocyte colony-stimulating factor receptor and its role in disorders of granulopoiesis. Leuk Lymphoma 28:265, 1998
2. Liu F, Wu HY, Wesselschmidt R, Kornaga T, Link DC: Impaired production and increased apoptosis of neutrophils in granulocyte colony-stimulating factor receptor-deficient mice. Immunity 5:491, 1996
3. Fukunaga R, Setom Y, Mizushimam S, Nagatam S: Three different mRNAs encoding human granulocyte colony-stimulating factor receptor. Proc Natl Acad Sci USA 87:8702, 1990
4. Larsen A, Davis T, Omis BM, Gimpel S, Sims JE, Cosman D, Park L, Sorenson E, March CJ, Smith CA: Expression cloning of a human granulocyte colony-stimulating factor receptor: A structural mosaic of hematopoietin receptor, immunoglobin, and fibronectin domains. J Exp Med 172:1559, 1990
5. Fukunaga R, Ishizaka-Ikeda E, Nagata S: Purification and characterization of the receptor for murine granulocyte colony-stimulating factor. J Biol Chem 265:14008, 1990
6. Avalos BR: Molecular analysis of the granulocyte colony-stimulating factor receptor. Blood 88:761, 1996
7. Fukunaga R, Ishizaka-Ikeda E, Pan C, Seto Y, Nagata S: Functional domains of the granulocyte colony-stimulating factor receptor. EMBO J 10:2855, 1991
8. Dong F, van Buitenen C, Pouwels K, Hoefsloot LH, Löwenberg B, Touw IP: Distinct cyloplasmic regions of the human granulocyte colony-stimulating factor receptor involved in induction of proliferation and maturation. Mol Cell Biol 13:7774, 1993
9. Ishizaka-Ikeda E, Fukunaga R, Wood WI, Goeddel DV, Nagata S: Signal transduction mediated by growth hormone receptor and its chimeric molecules with the granulocyte colony-stimulating factor receptor. Proc Natl Acad Sci USA 90:123, 1993
10. Dong F, Hoefsloot LH, Schelen AM, Broeders LCAM, Meijer Y, Veerman AJP, Touw IP, Löwenberg B: Identification of a nonsense mutation in the granulocyte colony-stimulating factor in severe congenital neutropenia. Proc Natl Acad Sci USA 91:4480, 1994
11. Dong, F, Brynes RK, Tidow N, Welte K, Löwenberg B, Touw IP: Mutations in the gene for the granulocyte colony stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. N Engl J Med 333:487, 1995
12. Welte K, Gabrilove J, Bronchud MH, Platzer E, Morstyn R: Filgrastim (r-metHuG-CSF): The first 10 years. Blood 88:1907, 1996
13. Tidow N, Pilz C, Teichmann B, Müller-Brechlin A, Germeshausen M, Kasper B, Rauprich P, Sykora K-W, Welte K: Clinical relevance of point mutations in the cytoplasmic domain of the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia. Blood 89:2369, 1997
14. Touw IP, Dong F: Severe congenital neutropenia terminating in acute myeloid leukemia: Disease progression associated with mutations in the granulocyte colony-stimulating factor receptor gene. Leuk Res 20:629, 1996
15. c-rel. Blood 85:3117, 1995
16. Maniatis T, Sambrook J, Fritsch E: Molecular Cloning: A Laboratory Manual. Cold Spring Harbor, NY, Cold Spring Harbor Laboratory Press, 1989, p 16.30
17. Munson P, Rodbard D: Ligand: A versatile computerized approach for characterization of ligand-binding systems. Anal Biochem 107:220, 1980
18. Dittrich E, Rose-John S, Gerhartz C, Müllberg J, Stoyan T, Yasukawa K, Heinrich PC, Graeve L: Identification of a region within the cytoplasmic domain of the interleukin-6 (IL-6) signal transducer gp130 important for ligand-induced endocytosis of the IL-6 receptor. J Biol Chem 269:19014, 1994
19. Dittrich E, Haft C, Muys L, Heinrich P, Graeve L: A dileucine motif and an upstream serine in the interleukin-6 (IL-6) signal transducer gp130 mediate ligand-induced endocytosis and down-regulation of the IL-6 receptor. J Biol Chem 271:5487, 1996
20. Bonifacino J: Biosynthetic labeling of proteins, in Coligan J, Kruisbeek A, Margulies D, Shevach E, Strober W (eds): Current Protocols in Immunology. New York, NY, Wiley, 1991, p 8.12.1
21. D'Andrea D, Lodish HF, Wong GG: Expression cloning of the murine erythropoietin receptor. Cell 57: 277, 1989
22. Kostmann R: Infantile genetic agranulocytosis: A new recessive lethal disease in man. Acta Paediatr Suppl 105:1, 1956
23. Kostmann R: Infantile genetic agranulocytosis: A review with presentation often new cases. Acta Paediatr Scand 64:362, 1975
24. Bonilla MA, Gillio AP, Ruggeiro M, Kernan NA, Brochstein JA, Abboud M, Fumagalli L, Vincent M, Garilove JL, Welte K, Souza L, O'Reilly R: Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. N Engl J Med 320:1574, 1989
25. Dale DC, Bonilla MA, Davis MW, Nakanishi AM, Hammond WP, Kurtzberg J, Wang W, Jakubowski A, Winton E, Lalezari P, Robinson W, Glaspy J, Emerson S, Gabrilove J, Vincent M, Boxer L: A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia. Blood 81:2496, 1993
26. Pietsch T, B hhrer C, Mempel K, Menzel T, Steffens U, Schrader C, Santos F, Zeidler C, Welte K: Blood mononuclear cells from patients with severe congenital neutropenia are capable of producing granulocyte colony-stimulating factor. Blood 77:1234, 1991
27. Mempel K, Pietsch T, Menzel T, Zeidler C, Welte K: Increased serum levels of granulocyte colony-stimulating factor in patients with severe congenital neutropenia. Blood 77:1919, 1991
28. Kyas U, Pietsch T, Welte K: Expression of receptors for granulocyte colony stimulating factor on neutrophils from patients with severe congenital neutropenia and cyclic neutropenia. Blood 79:1144, 1992
29. Kobayashi M, Yumiba C, Kawaguchi Y, Tanaka Y, Ueda K, Komazawa Y, Okada K: Abnormal response of myeloid progenitor cells to recombinant human colony stimulating factors in congenital neutropenia. Blood 75:2143, 1990
30. Welte K, Zeidler C, Reiter A, Müller W, Odenwald E, Souza L, Riehm H: Differential effects of granulocyte-macrophage colony-stimulating factor and granulocyte colony-stimulating factor in children with severe congenital neutropenia. Blood 75:1056, 1990
31. McLemore M, Poursine-Laurent J, Link D: 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, 1998
32. Hermans MHA, Ward AC, Antonissen C, Karis A, Löwenberg B, Touw IP: Perturbed granulopoiesis in mice with a targeted mutation in the granulocyte colony-stimulating factor receptor gene associated with severe chronic neutropenia. Blood 92:32, 1998
33. Duquesnoy P, Sobrier ML, Duriez B, Dastot F, Buchanan CR, Savage MO, Preece MA, Craescu CT, Blouquit Y, Goossens M: A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization. EMBOJ 13:1386, 1994
34. Accili D, Frapier C, Mosthaf L, McKeon C, Elbein SC, Permutt MA, Ramos E, Lander E, Ullrich A, Taylor SI: Mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes. EMBO J 8:2509, 1989
35. Koivisto U-M, Palvimo J, Janne O, Kontula K: A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia. Proc Natl Acad Sci USA 91:10526, 1994
36. Arcasoy M, Degar B, Harris K, Forget B: Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. Blood 89:4628, 1997
37. Carlberg K, Tapley P, Haystead C, Rohrschneider L: The role of kinase activity and the kinase insert region in ligand-induced internalization and degradation of the c-fins protein. EMBO J 10: 877, 1991
38. Joly M, Kazlauskas A, Fay FS, Covera S: Disruption of PDGF receptor trafficking by mutation of its PI-3 kinase binding sites. Science 263:684, 1994
39. Hunter MG, Avalos BR: Phosphatidylinositol 3′-kinase and SH2-containing inositol phosphatase (SHIP) are recruited by distinct positive and negative growth-regulatory domains in the granulocyte colony-stimulating factor receptor. J Immunol 160:4979, 1998
40. Beslu N, LaRose J, Casteran N, Birnbaum D, Lecocq E, Dubreuil P, Rottapel R: Phosphatidylinositol 3′-kinase is not required for mitogenesis or internalization of the Flt3/Flk2 receptor tyrosine kinase. J Biol Chem 271:20075, 1996
41. Theil S, Behrmann I, Dittrich E, Muys L, Tavernier J, Wijdenes J, Heinrich PC, Graeve L: Internalization of the interleukin 6 signal transducer gp 130 does not require activation of the Jak/STAT pathway. Biochem J 330:47, 1998