RAG-1 and ATM coordinate monoallelic recombination and nuclear positioning of immunoglobulin loci (original) (raw)

• Hesslein, D.G. & Schatz, D.G. Factors and forces controlling V(D)J recombination. Adv. Immunol. 78, 169–232 (2001).
  Article CAS Google Scholar
• Bassing, C.H., Swat, W. & Alt, F.W. The mechanism and regulation of chromosomal V(D)J recombination. Cell 109 (Suppl), S45–S55 (2002).
  Article CAS Google Scholar
• Hsu, L.Y. et al. A conserved transcriptional enhancer regulates RAG gene expression in developing B cells. Immunity 19, 105–117 (2003).
  Article CAS Google Scholar
• Gellert, M.V. (D)J recombination: RAG proteins, repair factors, and regulation. Annu. Rev. Biochem. 71, 101–132 (2002).
  Article CAS Google Scholar
• Roth, D.B. Restraining the V(D)J recombinase. Nat. Rev. Immunol. 3, 656–666 (2003).
  Article CAS Google Scholar
• Bassing, C.H. et al. Histone H2AX: a dosage-dependent suppressor of oncogenic translocations and tumors. Cell 114, 359–370 (2003).
  Article CAS Google Scholar
• Celeste, A. et al. Genomic instability in mice lacking histone H2AX. Science 296, 922–927 (2002).
  Article CAS Google Scholar
• Chen, H.T. et al. Response to RAG-mediated VDJ cleavage by NBS1 and γ-H2AX. Science 290, 1962–1965 (2000).
  Article CAS Google Scholar
• Bredemeyer, A.L. et al. ATM stabilizes DNA double-strand-break complexes during V(D)J recombination. Nature 442, 466–470 (2006).
  Article CAS Google Scholar
• Perkins, E.J. et al. Sensing of intermediates in V(D)J recombination by ATM. Genes Dev. 16, 159–164 (2002).
  Article CAS Google Scholar
• Fuxa, M. et al. Pax5 induces V-to-DJ rearrangements and locus contraction of the immunoglobulin heavy-chain gene. Genes Dev. 18, 411–422 (2004).
  Article CAS Google Scholar
• Kosak, S.T. et al. Subnuclear compartmentalization of immunoglobulin loci during lymphocyte development. Science 296, 158–162 (2002).
  Article CAS Google Scholar
• Roldan, E. et al. Locus 'decontraction' and centromeric recruitment contribute to allelic exclusion of the immunoglobulin heavy-chain gene. Nat. Immunol. 6, 31–41 (2005).
  Article CAS Google Scholar
• Sayegh, C., Jhunjhunwala, S., Riblet, R. & Murre, C. Visualization of looping involving the immunoglobulin heavy-chain locus in developing B cells. Genes Dev. 19, 322–327 (2005).
  Article CAS Google Scholar
• Alt, F.W. et al. Ordered rearrangement of immunoglobulin heavy chain variable region segments. EMBO J. 3, 1209–1219 (1984).
  Article CAS Google Scholar
• Fitzsimmons, S.P., Bernstein, R.M., Max, E.E., Skok, J.A. & Shapiro, M.A. Dynamic changes in accessibility, nuclear positioning, recombination, and transcription at the Igκ locus. J. Immunol. 179, 5264–5273 (2007).
  Article CAS Google Scholar
• Goldmit, M. et al. Epigenetic ontogeny of the Igk locus during B cell development. Nat. Immunol. 6, 198–203 (2005).
  Article CAS Google Scholar
• Xu, N., Tsai, C.L. & Lee, J.T. Transient homologous chromosome pairing marks the onset of X inactivation. Science 311, 1149–1152 (2006).
  Article CAS Google Scholar
• Bacher, C.P. et al. Transient colocalization of X-inactivation centres accompanies the initiation of X inactivation. Nat. Cell Biol. 8, 293–299 (2006).
  Article CAS Google Scholar
• Augui, S. et al. Sensing X chromosome pairs before X inactivation via a novel X-pairing region of the Xic. Science 318, 1632–1636 (2007).
  Article CAS Google Scholar
• Jung, D. & Alt, F.W. Unraveling V(D)J recombination; insights into gene regulation. Cell 116, 299–311 (2004).
  Article CAS Google Scholar
• Skok, J.A. et al. Reversible contraction by looping of the Tcra and Tcrb loci in rearranging thymocytes. Nat. Immunol. 8, 378–387 (2007).
  Article CAS Google Scholar
• Hesslein, D.G. et al. Pax5 is required for recombination of transcribed, acetylated, 5′ IgH V gene segments. Genes Dev. 17, 37–42 (2003).
  Article CAS Google Scholar
• 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. 11, 476–491 (1997).
  Article CAS Google Scholar
• Sonoda, E. et al. B cell development under the condition of allelic inclusion. Immunity 6, 225–233 (1997).
  Article CAS Google Scholar
• Fugmann, S.D., Villey, I.J., Ptaszek, L.M. & Schatz, D.G. Identification of two catalytic residues in RAG1 that define a single active site within the RAG1/RAG2 protein complex. Mol. Cell 5, 97–107 (2000).
  Article CAS Google Scholar
• Kim, D.R., Dai, Y., Mundy, C.L., Yang, W. & Oettinger, M.A. Mutations of acidic residues in RAG1 define the active site of the V(D)J recombinase. Genes Dev. 13, 3070–3080 (1999).
  Article CAS Google Scholar
• Landree, M.A., Wibbenmeyer, J.A. & Roth, D.B. Mutational analysis of RAG1 and RAG2 identifies three catalytic amino acids in RAG1 critical for both cleavage steps of V(D)J recombination. Genes Dev. 13, 3059–3069 (1999).
  Article CAS Google Scholar
• Bredemeyer, A.L. et al. DNA double-strand breaks activate a multi-functional genetic program in developing lymphocytes. Nature 456, 819–823 (2008).
  Article CAS Google Scholar
• Yin, B. & Bassing, C.H. The sticky business of histone H2AX in V(D)J recombination, maintenance of genomic stability, and suppression of lymphoma. Immunol. Res. 42, 29–40 (2008).
  Article CAS Google Scholar
• Callen, E. et al. ATM prevents the persistence and propagation of chromosome breaks in lymphocytes. Cell 130, 63–75 (2007).
  Article CAS Google Scholar
• Ma, Y., Pannicke, U., Schwarz, K. & Lieber, M.R. Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination. Cell 108, 781–794 (2002).
  Article CAS Google Scholar
• Rooney, S. et al. Leaky scid phenotype associated with defective V(D)J coding end processing in Artemis-deficient mice. Mol. Cell 10, 1379–1390 (2002).
  Article CAS Google Scholar
• Bertolino, E. et al. Regulation of interleukin 7-dependent immunoglobulin heavy-chain variable gene rearrangements by transcription factor STAT5. Nat. Immunol. 6, 836–843 (2005).
  Article CAS Google Scholar
• Chowdhury, D. & Sen, R. Mechanisms for feedback inhibition of the immunoglobulin heavy chain locus. Curr. Opin. Immunol. 16, 235–240 (2004).
  Article CAS Google Scholar
• Joliot, V., Cormier, F., Medyouf, H., Alcalde, H. & Ghysdael, J. Constitutive STAT5 activation specifically cooperates with the loss of p53 function in B-cell lymphomagenesis. Oncogene 25, 4573–4584 (2006).
  Article CAS Google Scholar
• Goetz, C.A., Harmon, I.R., O'Neil, J.J., Burchill, M.A. & Farrar, M.A. STAT5 activation underlies IL7 receptor-dependent B cell development. J. Immunol. 172, 4770–4778 (2004).
  Article CAS Google Scholar
• Hewitt, S.L. et al. Association between the Igk and Igh immunoglobulin loci mediated by the 3′ Igk enhancer induces 'decontraction' of the Igh locus in pre-B cells. Nat. Immunol. 9, 396–404 (2008).
  Article CAS Google Scholar
• Will, W.M. et al. Attenuation of IL-7 receptor signaling is not required for allelic exclusion. J. Immunol. 176, 3350–3355 (2006).
  Article CAS Google Scholar
• Li, F. & Eckhardt, L.A. A role for the IgH intronic enhancer Eμ in enforcing allelic exclusion. J. Exp. Med. 206, 153–167 (2009).
  Article CAS Google Scholar
• Mombaerts, P. et al. RAG-1-deficient mice have no mature B and T lymphocytes. Cell 68, 869–877 (1992).
  Article CAS Google Scholar
• Shinkai, Y. et al. RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement. Cell 68, 855–867 (1992).
  Article CAS Google Scholar
• Yu, W. et al. Coordinate regulation of RAG1 and RAG2 by cell type-specific DNA elements 5′ of RAG2. Science 285, 1080–1084 (1999).
  Article CAS Google Scholar
• Barlow, C. et al. Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell 86, 159–171 (1996).
  Article CAS Google Scholar
• Skok, J.A. et al. Nonequivalent nuclear location of immunoglobulin alleles in B lymphocytes. Nat. Immunol. 2, 848–854 (2001).
  Article CAS Google Scholar
• Campbell, R. Statistics for Biologists 107–117 (Cambridge University Press, Cambridge, 1989).
  Book Google Scholar
• Jonkers, J. et al. Synergistic tumor suppressor activity of BRCA2 and p53 in a conditional mouse model for breast cancer. Nat. Genet. 29, 418–425 (2001).
  Article CAS Google Scholar
• Stanhope-Baker, P., Hudson, K.M., Shaffer, A.L., Constantinescu, A. & Schlissel, M.S. Cell type-specific chromatin structure determines the targeting of V(D)J recombinase activity in vitro. Cell 85, 887–897 (1996).
  Article CAS Google Scholar
• Liang, H.E. et al. The “dispensable” portion of RAG2 is necessary for efficient V-to-DJ rearrangement during B and T cell development. Immunity 17, 639–651 (2002).
  Article CAS Google Scholar