Role of the translocation partner in protection against AID-dependent chromosomal translocations

Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):187-92. doi: 10.1073/pnas.0908946107. Epub 2009 Dec 4.

Abstract

Chromosome translocations between Ig (Ig) and non-Ig genes are frequently associated with B-cell lymphomas in humans and mice. The best characterized of these is c-myc/IgH translocation, which is associated with Burkitt's lymphoma. These translocations are caused by activation-induced cytidine deaminase (AID), which produces double-strand DNA breaks in both genes. c-myc/IgH translocations are rare events, in part because ATM, p53, and p19 actively suppress them. To further define the mechanism of protection against the accumulation of cells that bear c-myc/IgH translocation, we assayed B cells from mice that carry mutations in cell-cycle and apoptosis regulator proteins that act downstream of p53. We find that PUMA, Bim, and PKCdelta are required for protection against c-myc/IgH translocation, whereas Bcl-XL and BAFF enhance c-myc/IgH translocation. Whether these effects are general or specific to c-myc/IgH translocation and whether AID produces dsDNA breaks in genes other than c-myc and Ig is not known. To examine these questions, we developed an assay for translocation between IgH and Igbeta, both of which are somatically mutated by AID. Igbeta/IgH, like c-myc/IgH translocations, are AID-dependent, and AID is responsible for lesions on IgH and the non-IgH translocation partners. However, ATM, p53, and p19 do not protect against Igbeta/IgH translocations. Instead, B cells are protected against Igbeta/IgH translocations by a BAFF- and PKCdelta-dependent pathway. We conclude that AID-induced double-strand breaks in non-Ig genes other than c-myc lead to their translocation, and that at least two nonoverlapping pathways protect against translocations in primary B cells.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apoptosis Regulatory Proteins / genetics
  • Apoptosis Regulatory Proteins / metabolism
  • Ataxia Telangiectasia Mutated Proteins
  • B-Lymphocytes / immunology
  • Bcl-2-Like Protein 11
  • Cell Cycle Proteins / genetics
  • Cell Cycle Proteins / metabolism
  • Cell Transformation, Neoplastic
  • Cells, Cultured
  • Cyclin-Dependent Kinase Inhibitor p19 / genetics
  • Cyclin-Dependent Kinase Inhibitor p19 / metabolism
  • Cytidine Deaminase / genetics
  • Cytidine Deaminase / metabolism*
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism
  • Genes, Immunoglobulin
  • Humans
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism
  • Mice
  • Mice, Knockout
  • Protein Kinase C-delta / genetics
  • Protein Kinase C-delta / immunology
  • Protein Serine-Threonine Kinases / genetics
  • Protein Serine-Threonine Kinases / metabolism
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins / metabolism
  • Proto-Oncogene Proteins c-myc / genetics
  • Proto-Oncogene Proteins c-myc / metabolism
  • Somatic Hypermutation, Immunoglobulin
  • Translocation, Genetic*
  • Tumor Suppressor Protein p53 / genetics
  • Tumor Suppressor Protein p53 / metabolism
  • Tumor Suppressor Proteins / genetics
  • Tumor Suppressor Proteins / metabolism

Substances

  • Apoptosis Regulatory Proteins
  • BCL2L11 protein, human
  • Bcl-2-Like Protein 11
  • Bcl2l11 protein, mouse
  • Cell Cycle Proteins
  • Cyclin-Dependent Kinase Inhibitor p19
  • DNA-Binding Proteins
  • Membrane Proteins
  • Myc protein, mouse
  • PUMA protein, mouse
  • Proto-Oncogene Proteins
  • Proto-Oncogene Proteins c-myc
  • Tumor Suppressor Protein p53
  • Tumor Suppressor Proteins
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Atm protein, mouse
  • Protein Serine-Threonine Kinases
  • Protein Kinase C-delta
  • AICDA (activation-induced cytidine deaminase)
  • Cytidine Deaminase