Mutations in Igα (CD79a) result in a complete block in B-cell development

Journal of Clinical Investigation

Volumn 104, Issue 8, 1999, Pages 1115-1121

  Minegishi, Yoshiyuki ^a   Coustan Smith, Elaine ^a   Rapalus, Lisa ^a   Ersoy, Fügen ^b   Campana, Dario ^a,c   Conley, Mary Ellen ^a,c  

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^b HACETTEPE UNIVERSITY   (Turkey)

^c UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN HEAVY CHAIN; CD79 ANTIGEN; CD79A PROTEIN, HUMAN; CD79A PROTEIN, MOUSE; IMMUNOGLOBULIN MU CHAIN; LEUKOCYTE ANTIGEN; LYMPHOCYTE ANTIGEN RECEPTOR;

ARTICLE; B LYMPHOCYTE DIFFERENTIATION; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENE REARRANGEMENT; HUMAN; HUMAN CELL; IMMUNOGLOBULIN GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; AGAMMAGLOBULINEMIA; ANIMAL; B LYMPHOCYTE; FEMALE; GENETICS; HEMATOPOIETIC STEM CELL; MOUSE; MUTATION; PHENOTYPE; PHYSIOLOGY; PRESCHOOL CHILD;

AGAMMAGLOBULINEMIA; ANIMALS; ANTIGENS, CD; ANTIGENS, CD79; B-LYMPHOCYTES; CHILD, PRESCHOOL; FEMALE; HEMATOPOIETIC STEM CELLS; HUMANS; IMMUNOGLOBULIN MU-CHAINS; MICE; MUTATION; PHENOTYPE; RECEPTORS, ANTIGEN, B-CELL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0032589471     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI7696     Document Type: Article

References (42)

1. Karasuyama, H., et al. 1994. The expression of Vpre-B/lambda.5 surrogate light chain in early bone marrow precursor B cells of normal and B cell-deficient mutant mice. Cell. 77:133-143.
2. Lassoued, K., Illges, H., Benlagha, K., and Cooper, M.D. 1996. Fate of surrogate light chains in B lineage cells. J. Exp. Med. 183:421-429.
3. Koyama, M., et al. 1997. CD79α/CD79β heterodimers are expressed on pro-B cell surfaces without associated μ heavy chain. Int. Immunol. 9:1767-1772.
4. Nagata, K., et al. 1997. The Igα/Igβ heterodimer on μ-negative proB cells is competent for transducing signals to induce early B cell differentiation. Immunity. 7:559-570.
5. Gong, S., and Nussenzweig, M.C. 1996. Regulation of an early developmental checkpoint in the B cell pathway by Igβ. Science. 272:411-414.
6. Reth, M., Petrac, E., Wiese, P., Lobel. L., and Alt, F. W. 1987. Activation of Vκ gene rearrangement in pre-B cells follows the expression of membrane-bound immunoglobulin heavy chains. EMBO J. 6:3299-3305.
7. Tsubata, T., Tsubata, R., and Reth, M. 1992. Crosslinking of the cell surface immunoglobulin (mu-surrogate light chains complex) on pte-B cells induces activation of V gene rearrangements at the immunoglobulin κ locus. Int. Immunol. 4:637-641.
8. Sakaguchi, N., Kashiwamura, S., Kimoto, M., Thalmann, P., and Melchers, P. 1988. B lymphocyte lineage-restricted expression of mb-1, a gene with CD3-like structure properties. EMBO J. 7:3457-3464.
9. Hermanson, G.G., Eisenberg, D., Kincade, P.W., and Wall, R. 1988. B29: a member of the immunoglobulin gene superfamily exclusively expressed on B-lineage cells. Proc. Natl. Acad. Sci. USA. 85:6890-6894.
10. Reth, M., et al. 1991. The B-cell antigen receptot complex. Immunol. Today. 12:196-200.
11. Clark, M.R., et al. 1992. The B cell antigen receptor complex: association of Ig-α and 1g-β with distinct cytoplasmic effectors. Science. 258:123-126.
12. Sanchez, M., et al. 1993. Signal transduction by immunoglobulin is mediated through Igα and Igβ. J. Exp. Med. 178:1049-1055.
13. Kim, K.M., Alber, C., Weiser, P., and Reth, M. 1993. Differential signaling through the Ig-α and Ig-β components of the B cell antigen receptor. Eur. J. Immunol. 23:911-916.
14. Papavasiliou, P., Jankovic, M., Suh, H., and Nussenzweig, M.C. 1995. The cytoplasmic domains of immunoglobulin (Ig)α and Igβ independently induce the precursor B cell transition and allelic exclusion. J. Exp. Med. 182:1389-1394
15. Teh, Y.-M., and Neuberger, M.S. 1997. The immunoglobulin (Ig)α and Igβ cytoplasmic domains are independently sufficient to signal B cell maturation and activation in transgenic mice. J. Exp. Med. 185:1753-1758.
16. Torres, R.M., Flaswinkel, H., Reth, M., and Rajewsky, K. 1996. Aberrant B cell development and immune response in mice with a compromised BCR complex. Science. 272:1804-1808.
17. Kitamura, D., et al. 1992. A critical role of λ5 protein in B cell development. Cell. 69:823-831.
18. Minegishi, Y., et al. 1998. Mutations in the human λ5/14.1 gene result in B cell deficiency and agammaglobulinemia. J. Exp. Med. 187:71-77.
19. Peschon, J.J., et al. 1994. Early lymphocyte expression is severely impaired in interleukin 7 receptor-deficient mice. J. Exp. Med. 180:1955-1960.
20. von Freeden-Jeffry, U., et al. 1995. Lymphopenia in interleukin (IL)-7 gene-deleted mice identifies IL-7 as a nonredundant cytokine. J. Exp. Med. 181:1519-1526.
21. Puel, A., Ziegler, S.F., Buckley, R.H., and Leonard, W.J. 1998. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nat. Genet. 20:394-397.
22. Tuskada, S., et al. 1993. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell. 72:279-290.
23. Vetrie, D., et al. 1993. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature. 361:226-233.
24. Thomas, J.D., et al. 1993. Colocalization of X-linked agammagiobulinemia and X-linked immunodeficiency genes. Science. 261:355-358.
25. Rawlings, D.J., et al. 1993. Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice. Science. 261:358-361.
26. Yel, L., et al. 1996. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. N. Engl. J. Med. 335:1486-1493.
27. Conley, M.E., Fitch, H.M., Cleveland, J.L, Parolini, O., and Rohrer, J. 1994. Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. Hum. Mol. Genet. 3:1751-1756.
28. Meffre, E., et al. 1996. A human non-XLA immunodeficiency disease characterized by blockage of B cell development at an early proB cell stage. J. Clin. Invest. 98:1519-1526.
29. Conley, M.E., Mathias, D., Treadway, J., Minegishi, Y., and Rohrer, J. 1998. Mutations in Btk in patients with presumed X-linked agammaglobulinemia. Am. J. Hum. Genet. 62:1034-1043.
30. Gokmen, E., Raaphorst, F.M., Boldt, D.H., and Teale, J.M. 1998. Ig heavy chain third complementarity determining regions (H CDR3s) after stem cell transplantation do not resemble the developing human fetal H CDR3s in size distribution and Ig gene utilization. Blood. 92:2802-2814.
31. Melchers, F., et al. 1993. The surrogate light chain in B-cell development. Immunol. Today. 14:60-68.
32. Rajewsky, K. 1996. Clonal selection and learning in the antibody system. Nature. 381:751-758.
33. Costa, T.E., Franke, R.R., Sanchez, M., Misulovin, Z., and Nussenzweig, M.C. 1992. Functional reconstitution of an immunoglobulin antigen receptor in T cells. J. Exp. Med. 175:1669-1676,
34. Lassoued, K., Guglielmi, P., and Benlagha, K. 1997. Expression of the Igα and Igβ molecules in human pro-B cell lines. Bull. Acad. Natl. Med. 181:1465-1475.
35. Nakamura, T., Kubagawa, D., and Cooper, M.D. 1992. Heterogeneity of immunoglobulin-associated molecules on human B cells identified by monoclonal antibodies. Proc. Natl. Acad. Sci. USA. 89:8522-8526.
36. Okazaki, M., Luo, Y., Han, T., Yoshida, M., and Seon, B.K. 1993. Three new monoclonal antibodies that define a unique antigen associated with prolymphocytic leukemia/non-Hodgkin's lymphoma and are effectively internalized after binding to the cell surface antigen. Blood. 81:84-94.
37. Karasuyama, H., Rolink, A., and Melchers, F. 1993. A complex of glycoproteins is associated with VpreB/lambda 5 surrogate light chain on the surface of μ heavy chain-negative early precursor B cell lines. J. Exp. Med. 178:469-478.
38. Guelpa-Fonlupt, V., Tonnelle, C., Blaise, D., Fougereau, M., and Fumoux, F. 1994. Discrete early pro-B and pre-B stages in normal human bone marrow as defined by surface pseudo-light chain expression. Eur. J. Immunol. 24:257-264.
39. Meffre, E., Fougereau, M., Argenson, J.N., Aubaniac, J.M., and Schiff, C. 1996. Cell surface expression of surrogate light chain (ψL) in the absence of mu on human pro-B cell lines and normal pro-B cells. Eur. J. Immunol. 26:2172-2180.
40. Sanz, E. and de la Hera, A. 1996. A novel anti-Vpre-B antibody identifies immunoglobulin-surface receptors on the surface of human pro-B cells. J. Exp. Med. 183:2693-2698.
41. Wang, Y.H., Nomura, J., Faye-Petersen, O.M., and Cooper, M.D. 1998. Surrogate light chain production during B cell differentiation: differential intracellular versus cell surface expression. J. Immunol. 161:1132-1139.
42. Lassoued, K., et al. 1993. Expression of surrogate light chain receptors is restricted to a late stage in pre-B cell differentiation. Cell. 73:73-86.