Expression of essential B cell development genes in horses with common variable immunodeficiency

Molecular Immunology

Volumn 51, Issue 2, 2012, Pages 169-176

  Tallmadge, R L ^a   Such, K A ^a   Miller, K C ^a   Matychak, M B ^a   Felippe, M J B ^a  

^a Department of Obstetrics Gynecology   (United States)

Author keywords

B cell development; CVID; Humoral immunodeficiency

Indexed keywords

CD19 ANTIGEN; CD45 ANTIGEN; TRANSCRIPTION FACTOR E2A; TRANSCRIPTION FACTOR PAX5;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; B LYMPHOCYTE; B LYMPHOCYTE DIFFERENTIATION; BONE MARROW; CELL MATURATION; COMMON VARIABLE IMMUNODEFICIENCY; CONTROLLED STUDY; GENE EXPRESSION; GENE TARGETING; HORSE; NONHUMAN; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION;

ANIMALS; B-CELL-SPECIFIC ACTIVATOR PROTEIN; B-LYMPHOCYTES; BONE MARROW CELLS; CELL DIFFERENTIATION; COMMON VARIABLE IMMUNODEFICIENCY; HORSES; IMMUNOHISTOCHEMISTRY; PRECURSOR CELLS, B-LYMPHOID; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EQUIDAE;

EID: 84860373992     PISSN: 01615890     EISSN: 18729142     Source Type: Journal    
DOI: 10.1016/j.molimm.2012.03.018     Document Type: Article

References (45)

1. Bain G., Maandag E.C., Izon D.J., Amsen D., Kruisbeek A.M., Weintraub B.C., Krop I., Schlissel M.S., Feeney A.J., van Roon M., et al. E2A proteins are required for proper B cell development and initiation of immunoglobulin gene rearrangements. Cell 1994, 79(5):885-892.
2. Chapel H., Cunningham-Rundles C. Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions. Brit. J. Haematol. 2009, 145(6):709-727.
3. Cobaleda C., Schebesta A., Delogu A., Busslinger M. Pax5: the guardian of B cell identity and function. Nat. Immunol. 2007, 8(5):463-470.
4. Cunningham-Rundles C., Knight A.K. Common variable immune deficiency: reviews, continued puzzles, and a new registry. Immunol. Res. 2007, 38(1-3):78-86.
5. Decker T., Pasca di Magliano M., McManus S., Sun Q., Bonifer C., Tagoh H., Busslinger M. Stepwise activation of enhancer and promoter regions of the B cell commitment gene Pax5 in early lymphopoiesis. Immunity 2009, 30(4):508-520.
6. DeKoter R.P., Lee H.J., Singh H. PU.1 regulates expression of the interleukin-7 receptor in lymphoid progenitors. Immunity 2002, 16(2):297-309.
7. Drummond, A., Ashton, B., Cheung, M., Heled, J., Kearse, M., Moir, R., Stones-Havas, S., Thierer, T., Wilson, A., 2009. Geneious v4.7. Available from: http://www.geneious.com/.
8. Ebert A., McManus S., Tagoh H., Medvedovic J., Salvagiotto G., Novatchkova M., Tamir I., Sommer A., Jaritz M., Busslinger M. The distal V(H) gene cluster of the Igh locus contains distinct regulatory elements with Pax5 transcription factor-dependent activity in pro-B cells. Immunity 2011, 34:175-187.
9. Flaminio M.J., LaCombe V., Kohn C.W., Antczak D.F. Common variable immunodeficiency in a horse. J. Am. Vet. Med. Assoc. 2002, 221(9):1296-1302. 67.
10. Flaminio M.J., Tallmadge R.L., Salles-Gomes C.O., Matychak M.B. Common variable immunodeficiency in horses is characterized by B cell depletion in primary and secondary lymphoid tissues. J. Clin. Immunol. 2009, 29(1):107-116.
11. Fuxa M., Skok J.A. Transcriptional regulation in early B cell development. Curr. Opin. Immunol. 2007, 19(2):129-136.
12. Hagman J., Lukin K. Transcription factors drive B cell development. Curr. Opin. Immunol. 2006, 18(2):127-134.
13. Hao Z., Rajewsky K. Homeostasis of peripheral B cells in the absence of B cell influx from the bone marrow. J. Exp. Med. 2001, 194(8):1151-1164.
14. Horcher M., Souabni A., Busslinger M. Pax5/BSAP maintains the identity of B cells in late B lymphopoiesis. Immunity 2001, 14(6):779-790.
15. Kwon K., Hutter C., Sun Q., Bilic I., Cobaleda C., Malin S., Busslinger M. Instructive role of the transcription factor E2A in early B lymphopoiesis and germinal center B cell development. Immunity 2008, 28(6):751-762.
16. Lin H., Grosschedl R. Failure of B-cell differentiation in mice lacking the transcription factor EBF. Nature 1995, 376(6537):263-267.
17. Liu P., Keller J.R., Ortiz M., Tessarollo L., Rachel R.A., Nakamura T., Jenkins N.A., Copeland N.G. Bcl11a is essential for normal lymphoid development. Nat. Immunol. 2003, 4(6):525-532.
18. Mackarehtschian K., Hardin J.D., Moore K.A., Boast S., Goff S.P., Lemischka I.R. Targeted disruption of the flk2/flt3 gene leads to deficiencies in primitive hematopoietic progenitors. Immunity 1995, 3(1):147-161.
19. Maier H., Ostraat R., Gao H., Fields S., Shinton S.A., Medina K.L., Ikawa T., Murre C., Singh H., Hardy R.R., Hagman J. Early B cell factor cooperates with Runx1 and mediates epigenetic changes associated with mb-1 transcription. Nat. Immunol. 2004, 5(10):1069-1077.
20. Medina K.L., Singh H. Gene regulatory networks orchestrating B cell fate specification, commitment, and differentiation. Curr. Top. Microbiol. Immunol. 2005, 290:1-14.
21. Michaelson J.S., Singh M., Birshtein B.K. B cell lineage-specific activator protein (BSAP). A player at multiple stages of B cell development. J. Immunol. 1996, 156(7):2349-2351.
22. Morrison A.M., Nutt S.L., Thevenin C., Rolink A., Busslinger M. Loss- and gain-of-function mutations reveal an important role of BSAP (Pax-5) at the start and end of B cell differentiation. Semin. Immunol. 1998, 10(2):133-142.
23. Nutt S.L., Morrison A.M., Dorfler P., Rolink A., Busslinger M. Identification of BSAP (Pax-5) target genes in early B-cell development by loss- and gain-of-function experiments. EMBO J. 1998, 17(8):2319-2333.
24. Nutt S.L., Urbanek P., Rolink A., Busslinger M. Essential functions of Pax5 (BSAP) in pro-B cell development: difference between fetal and adult B lymphopoiesis and reduced V-to-DJ recombination at the IgH locus. Genes Dev. 1997, 11(4):476-491.
25. Park M.A., Li J.T., Hagan J.B., Maddox D.E., Abraham R.S. Common variable immunodeficiency: a new look at an old disease. Lancet 2008, 372(9637):489-502.
26. Pellegrini-Masini A., Bentz A.I., Johns I.C., Parsons C.S., Beech J., Whitlock R.H., Flaminio M.J. Common variable immunodeficiency in three horses with presumptive bacterial meningitis. J. Am. Vet. Med. Assoc. 2005, 227(1):114-122. 87.
27. Ramirez J., Lukin K., Hagman J. From hematopoietic progenitors to B cells: mechanisms of lineage restriction and commitment. Curr. Opin. Immunol. 2010, 22(2):177-184.
28. Roessler S., Gyory I., Imhof S., Spivakov M., Williams R.R., Busslinger M., Fisher A.G., Grosschedl R. Distinct promoters mediate the regulation of Ebf1 gene expression by interleukin-7 and Pax5. Mol. Cell. Biol. 2007, 27(2):579-594.
29. Salzer U., Neumann C., Thiel J., Woellner C., Pan-Hammarstrom Q., Lougaris V., Hagena T., Jung J., Birmelin J., Du L., Metin A., Webster D.A., Plebani A., Moschese V., Hammarstrom L., Schaffer A.A., Grimbacher B. Screening of functional and positional candidate genes in families with common variable immunodeficiency. BMC Immunol. 2008, 9:3.
30. Schebesta A., McManus S., Salvagiotto G., Delogu A., Busslinger G.A., Busslinger M. Transcription factor Pax5 activates the chromatin of key genes involved in B cell signaling, adhesion, migration, and immune function. Immunity 2007, 27(1):49-63.
31. Sekine H., Ferreira R.C., Pan-Hammarstrom Q., Graham R.R., Ziemba B., de Vries S.S., Liu J., Hippen K., Koeuth T., Ortmann W., Iwahori A., Elliott M.K., Offer S., Skon C., Du L., Novitzke J., Lee A.T., Zhao N., Tompkins J.D., Altshuler D., Gregersen P.K., Cunningham-Rundles C., Harris R.S., Her C., Nelson D.L., Hammarstrom L., Gilkeson G.S., Behrens T.W. Role for Msh5 in the regulation of Ig class switch recombination. Proc. Natl. Acad. Sci. U.S.A. 2007, 104(17):7193-7198.
32. Singh H., Medina K.L., Pongubala J.M. Contingent gene regulatory networks and B cell fate specification. Proc. Natl. Acad. Sci. U.S.A. 2005, 102(14):4949-4953.
33. Sitnicka E., Brakebusch C., Martensson I.L., Svensson M., Agace W.W., Sigvardsson M., Buza-Vidas N., Bryder D., Cilio C.M., Ahlenius H., Maraskovsky E., Peschon J.J., Jacobsen S.E. Complementary signaling through flt3 and interleukin-7 receptor alpha is indispensable for fetal and adult B cell genesis. J. Exp. Med. 2003, 198(10):1495-1506.
34. Sitnicka E., Buza-Vidas N., Ahlenius H., Cilio C.M., Gekas C., Nygren J.M., Mansson R., Cheng M., Jensen C.T., Svensson M., Leandersson K., Agace W.W., Sigvardsson M., Jacobsen S.E. Critical role of FLT3 ligand in IL-7 receptor independent T lymphopoiesis and regulation of lymphoid-primed multipotent progenitors. Blood 2007, 110(8):2955-2964.
35. Tennent-Brown B.S., Navas de Solis C., Foreman J.H., Goetz T.E., Fredrickson R.L., Borst L.B., Flaminio M.J.B.F. Common variable immunodeficiency in a horse with chronic peritonitis. Equine Vet. Educ. 2010, 22(8):393-399.
36. Thal M.A., Carvalho T.L., He T., Kim H.G., Gao H., Hagman J., Klug C.A. Ebf1-mediated down-regulation of Id2 and Id3 is essential for specification of the B cell lineage. Proc. Natl. Acad. Sci. U.S.A. 2009, 106(2):552-557.
37. Treiber T., Mandel E.M., Pott S., Gyory I., Firner S., Liu E.T., Grosschedl R. Early B cell factor 1 regulates B cell gene networks by activation, repression, and transcription-independent poising of chromatin. Immunity 2010, 32(5):714-725.
38. Urbanek P., Wang Z.Q., Fetka I., Wagner E.F., Busslinger M. Complete block of early B cell differentiation and altered patterning of the posterior midbrain in mice lacking Pax5/BSAP. Cell 1994, 79(5):901-912.
39. Wang H., Lee C.H., Qi C., Tailor P., Feng J., Abbasi S., Atsumi T., Morse H.C. IRF8 regulates B-cell lineage specification, commitment, and differentiation. Blood 2008, 112(10):4028-4038.
40. Warnatz K., Salzer U., Rizzi M., Fischer B., Gutenberger S., Bohm J., Kienzler A.K., Pan-Hammarstrom Q., Hammarstrom L., Rakhmanov M., Schlesier M., Grimbacher B., Peter H.H., Eibel H. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc. Natl. Acad. Sci. U.S.A. 2009, 106(33):13945-13950.
41. Wilmott R.W. Delayed diagnosis in common variable immunodeficiency. J. Pediatr. 2009, 154(6):A1.
42. Yong P.F., Thaventhiran J.E., Grimbacher B. "A Rose is a Rose is a Rose", but CVID is not CVID common variable immune deficiency (CVID), what do we know in 2011?. Adv. Immunol. 2011, 111:47-107.
43. Zandi S., Mansson R., Tsapogas P., Zetterblad J., Bryder D., Sigvardsson M. EBF1 is essential for B-lineage priming and establishment of a transcription factor network in common lymphoid progenitors. J. Immunol. 2008, 181(5):3364-3372.
44. Zhuang Y., Soriano P., Weintraub H. The helix-loop-helix gene E2A is required for B cell formation. Cell 1994, 79(5):875-884.
45. Zwollo P., Desiderio S. Specific recognition of the blk promoter by the B-lymphoid transcription factor B-cell-specific activator protein. J. Biol. Chem. 1994, 269(21):15310-15317.