Analysis of the Bruton's tyrosine kinase gene promoter reveals critical PU.1 and SP1 sites

Blood

Volumn 87, Issue 3, 1996, Pages 1036-1044

  Himmelmann, Andreas ^a   Thevenin, Claire ^a   Harrison, Kathleen ^a   Kehrl, John H ^a,b  

^a NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LUCIFERASE; MESSENGER RNA; PROTEIN TYROSINE KINASE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PU1; TRANSCRIPTION FACTOR SP1; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; B LYMPHOCYTE; BINDING SITE; BONE MARROW CELL; CONTROLLED STUDY; GENE EXPRESSION REGULATION; GENE MAPPING; HUMAN; HUMAN CELL; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; SITE DIRECTED MUTAGENESIS; TISSUE SPECIFICITY; TRANSCRIPTION INITIATION; X LINKED AGAMMAGLOBULINEMIA;

EID: 0030025695     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v87.3.1036.bloodjournal8731036     Document Type: Article

References (39)

1. Lederman HM, Winkelstein JA: X-linked agammaglobulinemia: An analysis of 96 patients. Medicine 64:145, 1985
2. Cooper MD, Nishimoto N, Lassoued K, Nunex C, Nakamura T, Kubagawa H, Volanakis JE: Antibody deficiencies reflect abnormal B cell differentiation. Prog Immunol 8:535, 1993
3. Conley ME, Parolini O, Rohrer J, Campana D: X-linked agammaglobulinemia: New approaches to old questions based on the identification of the defective gene. Immunol Rev 138:5, 1994
4. Conley ME, Brown P, Pickard AR, Buckley RH, Miller DS, Raskind WH, Singer JW, Fialkow PJ: Expression of the gene defect in X-linked agammaglobulinemia. N Engl J Med 315:564, 1986
5. Campana D, Farrant J, Inamdar N, Webster ADB, Janossy G: Phenotypic features and proliferative activity of B cell progenitors in X-linked agammaglobulinemia. J Immunol 145:1675, 1990
6. Kwan S-P, Kunkel L, Bruns G, Wedgewood RJ, Latt S, Rosen FS: Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism. J Clin Invest 77:649, 1986
7. Parolini O, Hejtmancik JF, Allen RC, Belmont JW, Lassiter GL, Henry MJ, Barker DF, Conley ME: Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22. Genomics 15:342, 1993
8. Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, Kubagawa H, Mohandas T, Quan S, Belmont JW, Cooper MD, Conley ME, Witte ON: Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72:279, 1993
9. Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, Hammarstrom L, Kinnon C, Levinsky R, Bobrow M, Smith CIE, Bentley DR: The gene involved in X-linked agammaglobulinemia is a member of the Src family of protein-tyrosine kinases. Nature 361:226, 1993
10. Haslam RJ, Kolde HB, Hemmings BA: Pleckstrin domain homology. Nature 363:309, 1993
11. Mayer BJ, Ren R, Clark KL, Baltimore D: A putative modular domain present in diverse signaling proteins. Cell 73:629, 1993
12. Harlan JE, Hajduk PJ, Yoon HS, Fesik SW: Pleckstrin homology domains bind to phosphatidylinositol-4,5-bisphosphate. Nature 371:168, 1994
13. Cheng G, Ye Z-S, Baltimore D. Binding of Bruton's tyrosine kinase to Fyn, Lyn, or Hck through a Src homology 3 domain-mediated interaction. Proc Natl Acad Sci USA 91:8152, 1994
14. Kawakami Y, Yao L, Miura T, Tsukada S, Witte ON, Kawakami T: Tyrosine phosphorylation and activation of Bruton tyrosine kinase upon Fc-ε RI cross linking. Mol Cell Biol 14:5108, 1994
15. Smith CIE, Baskin B, Humire-Greiff P, Zhou J, Olsson PG, Masniar HS, Kjellen P, Lambris JD, Christensson B, Hammarstrom L: Expression of Bruton's agammaglobulinemia tyrosine kinase gene, Btk, is selectively down-regulated in T lymphocytes and plasma cells. J Immunol 152:557, 1994
16. deWeers M, Verschuren MCM, Kraakman MEM, Mensink RGJ, Schuurman RKB, vanDongen JJM, Hendriks RW: The Bruton's tyrosine kinase gene is expressed throughout B cell differentiation, from early precursor B cell stages preceding immunoglobulin gene rearrangement up to mature B cell stages. Eur J Immunol 23:3109, 1993
17. Bradley LAD, Sweatman AK, Lovering RC, Jones AM, Morgan G, Levinsky RJ, Kinnon C: Mutation detection in the X-linked agammaglobulinemia gene, Btk, using single strand conformation polymorphism analysis. Hum Mol Genet 3:79, 1994
18. Saffran DC, Parolini O, Fitch-Hilgenberg ME, Rawlings DJ, Afar DEH, Witte ON, Conley ME: A point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. N Engl J Med 330:1488, 1994
19. Ohta Y, Haire RN, Litman RT, Fu SM, Nelson RP, Kratz J, Kornfeld SJ, Morena MDL, Good RA, Litman GW: Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: Localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia. Proc Natl Acad Sci USA 91:9062, 1994
20. Dignam JE, Martin PI, Shastry BS, Roeder RG: Eukaryotic gene transcription with purified components. Methods Enzymol 101:582, 1983
21. Schreiber E, Matthias P, Muller MM, Schaffner W: Identification of a novel lymphoid specific octamer binding protein (OTF-2B) by proteolytic clipping bandshift assay (PCBA). EMBO J 7:4221, 1988
22. Klemsz MJ, McKercher SR, Celada A, vanBeveren C, Maki RA: The macrophage and B cell-specific transcription factor PU.1 is related to the ets oncogene. Cell 61:113, 1990
23. Shin MK, Koshland ME: Ets-related protein PU.1 regulates expression of the immunoglobulin J-chain gene through a novel Ets-binding element. Genes Dev 7:2006, 1993
24. Rohrer J, Parolino O, Belmont JW, Conley ME: The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia. Immunogenetics 40:319, 1994
25. Sideras P, Muller S, Shiels H, Jin H, Khan WN, Nilsson L, Parkinson E, Thomas JD, Branden L, Larsson I, Paul WE, Rosen FS, Alt FW, Vetrie D, Smith CIE, Xanthopoulos KG: Genomic organization of mouse and human Bruton's agammaglobulinemia tyrosine kinase (Btk) loci. J Immunol 153:5607, 1994
26. Petterson M, Schaffner W: A purine-rich DNA sequence motif present in SV 40 and lymphotropic papovavirus binds a lymphoid-specific factor and contributes to enhancer activity in lymphoid cells. Genes Dev 1:962, 1987
27. Nelsen B, Tian G, Eman B, Gregoire J, Maki R, Graves B, Sen R: Regulation of lymphoid-specific immunoglobulin mu heavy chain gene enhancer by ETS-domain proteins. Science 261:82, 1993
28. Eisenbeis CF, Singh H, Storb U: PU.1 is a component of a multiprotein complex which binds an essential site in the murine immunoglobulin λ2-4 enhancer. Mol Cell Biol 13:6452, 1993
29. Pahl HL, Scheibe R, Zhang D, Chen HM, Galson DL, Maki RA, Tenen DG: The proto-oncogene PU.1 regulates expression of the myeloid-specific CD11b promoter. J Biol Chem 268:5014, 1993
30. Zhang D, Hetherington CJ, Chen H-M, Tenen D: The macrophage transcription factor PU.1 directs tissue-specific expression of the macrophage colony-stimulating factor receptor. Mol Cell Biol 14:373, 1994
31. Pongubala JR, Nagulapalli S, Klemsz MJ, McKercher SR, Maki RA, Atchinson ML: PU.1 recruits a second nuclear factor to a site important for immunoglobulin κ3′ enhancer activity. Mol Cell Biol 12:368, 1992
32. Moreau-Gachelin F, Tavitian A, Tambourin P: Spi-1 is a putative oncogene in virally induced murine erythroleukemias. Nature 331:277, 1988
33. Moreau-Gachelin F: Spi-1PU.1: An oncogene of the Ets family. Biochim Biophys Acta 1198:149, 1994
34. Voso MT, Burn TC, Gerburg W, Lim B, Leone G, Tenen DG: Inhibition of hematopoiesis by competitive binding of transcription factor PU.1. Proc Natl Acad Sci USA 91.7932, 1994
35. Hromas R, Orazi A, Neiman R, Maki R, VanBeveren C, Moore J, Klemsz M: Hematopoietic lineage and stage-restricted expression of the ETS oncogene family member PU.1. Blood 82:2998, 1993
36. Scott EW, Simon MC, Anastasi J, Singh H: Requirement of transcription factor PU.1 in the development of multiple hematopoietic lineages. Science 265:1573, 1994
37. Pugh BF, Tjian R: Mechanism of transcriptional activation by Sp1: Evidence for coactivators. Cell 61:1187, 1990
38. Courey AJ, Tjian R: Analysis of Sp1 in vivo reveals multiple transcriptional domains, including a novel glutamine-rich activation motif. Cell 55:887, 1988
39. Chen H-M, Pahl HL, Scheibe RJ, Zhang D-E, Tenen DG: The Sp1 transcription factor binds the CD11b promoter specifically in myeloid cells in vivo and is essential for myeloid-specific promoter activity. J Biol Chem 268:8230, 1993